GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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CFTR (CF transmembrane conductance regulator)

Gene

1080

CF transmembrane conductance regulator

CFTR

ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1

7q31.2

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]

Show/Hide all(730)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800073	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs1800074	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs1800076	G>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, not-provided, benign, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800077	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs1800079	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800086	C>G,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1800097	G>A,C	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs1800098	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800100	C>A,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1800103	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic, benign	Missense variant, coding sequence variant
rs1800104	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs1800110	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800111	G>C	Uncertain-significance, pathogenic, risk-factor, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1800112	T>C	Pathogenic, benign-likely-benign, benign, likely-benign	Missense variant, coding sequence variant
rs1800114	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1800118	A>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs1800120	G>A,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs1800121	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs1800123	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1800135	C>A,G,T	Benign-likely-benign, benign, likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs4148725	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs11971167	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, drug-response	Coding sequence variant, missense variant
rs34911792	T>G	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs35396083	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs35516286	T>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic, benign	Missense variant, coding sequence variant
rs36210737	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs74467662	A>C,G	Pathogenic	Intron variant
rs74503330	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs74597325	C>G,T	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs74767530	C>T	Pathogenic	Stop gained, coding sequence variant
rs75039782	C>G,T	Drug-response, pathogenic	Intron variant
rs75053309	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs75096551	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs75115087	A>T	Pathogenic	Stop gained, coding sequence variant
rs75389940	A>G	Pathogenic	Missense variant, coding sequence variant
rs75527207	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs75528968	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs75541969	G>C	Drug-response, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs75549581	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs75763344	G>A,C,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs75789129	A>G	Likely-benign, benign, benign-likely-benign, pathogenic	Missense variant, coding sequence variant
rs75961395	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs76151804	A>G	Pathogenic	Intron variant
rs76371115	A>C,G,T	Uncertain-significance, not-provided, pathogenic	Missense variant, coding sequence variant
rs76554633	C>A,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs76649725	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs76713772	G>A	Pathogenic	Splice acceptor variant
rs76879328	C>A	Pathogenic	Missense variant, coding sequence variant
rs77010898	G>A,C	Uncertain-significance, drug-response, pathogenic	Missense variant, stop gained, coding sequence variant
rs77035409	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs77188391	G>A,T	Pathogenic	Splice donor variant
rs77284892	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs77409459	C>T	Pathogenic	Missense variant, coding sequence variant
rs77834169	C>A,G,T	Uncertain-significance, drug-response, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs77902683	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs77932196	G>A,C,T	Likely-pathogenic, drug-response, pathogenic	Missense variant, coding sequence variant
rs78194216	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs78440224	G>A	Pathogenic	Intron variant
rs78655421	G>A,C,T	Not-provided, drug-response, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs78756941	G>T	Pathogenic	Splice donor variant
rs78769542	G>A,C	Not-provided, drug-response, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs78802634	G>A	Pathogenic	Stop gained, coding sequence variant
rs78984783	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs79031340	G>T	Pathogenic	Stop gained, coding sequence variant
rs79633941	C>T	Pathogenic	Stop gained, coding sequence variant
rs79635528	A>C,G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs79660178	T>A	Pathogenic	Stop gained, coding sequence variant
rs79688066	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs79850223	C>T	Pathogenic	Stop gained, coding sequence variant
rs80034486	C>G	Pathogenic	Missense variant, coding sequence variant
rs80055610	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs80224560	G>A	Pathogenic	Intron variant
rs80282562	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs113857788	G>C,T	Uncertain-significance, pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113993958	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance, drug-response, not-provided	Missense variant, coding sequence variant
rs113993959	G>A,T	Drug-response, pathogenic	Missense variant, coding sequence variant, stop gained
rs115545701	C>T	Uncertain-significance, drug-response, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908746	AA>-,A,AAA,AAAA	Pathogenic	Coding sequence variant, frameshift variant
rs121908748	G>A,C,T	Pathogenic	Splice donor variant
rs121908749	C>T	Pathogenic	Coding sequence variant, stop gained
rs121908750	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908751	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121908752	T>G	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121908753	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121908755	G>A,T	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121908757	A>C	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121908758	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121908759	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121908760	C>T	Pathogenic	Coding sequence variant, stop gained
rs121908761	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs121908763	C>G	Pathogenic	Coding sequence variant, stop gained
rs121908764	G>A	Pathogenic	Coding sequence variant, stop gained
rs121908765	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121908766	C>A,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs121908767	ATAGTG>-	Pathogenic-likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs121908768	TCT>-	Pathogenic, likely-pathogenic	Inframe deletion, coding sequence variant
rs121908769	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908770	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908771	T>-,TT	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs121908772	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908773	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908774	C>-	Pathogenic	Coding sequence variant, stop gained
rs121908777	TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA>-,TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA	Pathogenic-likely-pathogenic	Inframe deletion, coding sequence variant, inframe insertion
rs121908779	CTCAAAACT>A	Pathogenic	Coding sequence variant, frameshift variant
rs121908780	GAAATTCAATCCT>AGAAA	Pathogenic	Coding sequence variant, frameshift variant
rs121908781	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs121908782	CCAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs121908784	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908788	->G	Pathogenic	Coding sequence variant, stop gained
rs121908789	->T	Pathogenic	Coding sequence variant, frameshift variant
rs121908791	G>A	Pathogenic	Splice donor variant
rs121908792	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs121908793	G>A,T	Pathogenic	Splice acceptor variant
rs121908794	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs121908796	G>A,T	Pathogenic	Intron variant
rs121908797	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs121908798	TAT>G,T	Pathogenic	Stop gained, coding sequence variant, frameshift variant
rs121908799	AA>G	Pathogenic	Coding sequence variant, frameshift variant
rs121908800	T>A,C,G	Pathogenic, not-provided	Splice donor variant
rs121908801	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908802	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908803	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121908804	GAGAATGATGATGAAGTACAGG>-	Pathogenic	Splice donor variant, coding sequence variant
rs121908808	->T	Pathogenic	Coding sequence variant, frameshift variant
rs121908810	C>T	Pathogenic	Coding sequence variant, stop gained
rs121908811	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs121908812	T>-	Pathogenic	Coding sequence variant, stop gained
rs121909005	T>A,C,G	Drug-response, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121909006	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs121909008	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909010	G>A	Pathogenic	Coding sequence variant, stop gained
rs121909011	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909012	C>T	Pathogenic	Coding sequence variant, stop gained
rs121909013	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121909015	G>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121909016	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909018	G>T	Pathogenic	Coding sequence variant, stop gained
rs121909019	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909020	G>A,C	Drug-response, uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909021	C>T	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121909023	A>T	Pathogenic	Coding sequence variant, stop gained
rs121909025	G>A	Pathogenic	Coding sequence variant, stop gained
rs121909026	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs121909028	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909031	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909033	A>T	Pathogenic	Missense variant, coding sequence variant
rs121909034	C>A,T	Benign-likely-benign, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, stop gained
rs121909035	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909036	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs121909037	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121909040	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121909041	T>A,C	Drug-response, pathogenic	Missense variant, coding sequence variant
rs121909042	A>C,T	Pathogenic	Missense variant, coding sequence variant
rs121909043	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs121909045	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121909046	A>G	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121909047	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs138025486	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs138634146	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs138642693	T>C	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs139304906	T>C	Pathogenic	Missense variant, coding sequence variant
rs139379077	C>G	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs139468767	T>C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs139729994	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs140455771	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs140502196	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs141033578	C>G,T	Drug-response, likely-pathogenic, uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs141158996	G>A,T	Pathogenic	Splice donor variant
rs141482808	T>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141723617	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs142394380	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs142773283	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142920240	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143486492	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs143570767	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs144055758	A>G	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs144476686	T>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144781064	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs145449046	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs145483167	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant
rs145540754	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145877746	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs146521846	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs146795445	T>C	Pathogenic	Splice donor variant
rs146804928	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs148519623	T>G	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs148783445	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149790377	T>A	Pathogenic	Coding sequence variant, stop gained
rs150157202	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs150212784	T>C,G	Drug-response, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150683293	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs151020603	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs151048781	G>A,C	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs151235408	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs185028612	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Upstream transcript variant
rs186045772	T>A	Drug-response, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs191456345	A>G	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs193922497	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922498	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs193922501	C>T	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922503	G>A,T	Pathogenic	Intron variant
rs193922504	T>C	Pathogenic	Missense variant, coding sequence variant
rs193922505	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs193922509	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922510	->T	Pathogenic	Coding sequence variant, frameshift variant
rs193922511	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922514	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs193922515	A>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs193922516	C>A,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922519	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922520	G>A	Pathogenic	Intron variant
rs193922521	->TAT	Likely-pathogenic	Inframe insertion, coding sequence variant
rs193922523	->AGGG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922524	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922525	G>A	Drug-response, pathogenic	Missense variant, coding sequence variant
rs193922526	T>C	Likely-pathogenic	Splice donor variant
rs193922528	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922529	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922532	C>G	Pathogenic	Coding sequence variant, stop gained
rs193922533	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922730	A>C,G	Pathogenic	Splice acceptor variant
rs193922732	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs199630678	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199791061	G>A	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs200321110	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs200337193	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs200901072	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200955612	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs201124247	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201386642	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201591901	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201716473	A>G	Likely-benign, uncertain-significance, benign-likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant
rs201978662	G>A	Pathogenic	Missense variant, coding sequence variant
rs202179988	C>T	Likely-pathogenic, pathogenic, uncertain-significance, drug-response	Missense variant, coding sequence variant
rs267606722	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606723	G>A,T	Pathogenic, drug-response, not-provided	Missense variant, coding sequence variant
rs367850319	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs368505753	C>T	Pathogenic, drug-response	Missense variant, coding sequence variant
rs369521395	C>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs371315549	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs372227120	G>A,T	Pathogenic	Splice donor variant
rs373885282	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs374013084	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs374705585	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs374946172	C>T	Pathogenic	Coding sequence variant, stop gained
rs375661578	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs375845215	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs377447726	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs377729736	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Intron variant
rs386134230	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387906359	->AT	Pathogenic	Frameshift variant, coding sequence variant
rs387906360	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs387906361	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906362	A>G	Pathogenic	Intron variant
rs387906363	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906364	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906365	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906366	->CTATG	Pathogenic	Frameshift variant, coding sequence variant
rs387906367	TGATTGATTTAC>-	Pathogenic	Intron variant
rs387906368	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387906369	G>A	Pathogenic	Splice acceptor variant
rs387906370	->C	Pathogenic	Frameshift variant, coding sequence variant
rs387906371	AATAGCTATGTTTAGTTT>-	Pathogenic	Inframe deletion, coding sequence variant
rs387906373	ATTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906374	A>G	Pathogenic	Intron variant
rs387906375	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906376	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906377	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906378	->TCAA	Pathogenic	Frameshift variant, coding sequence variant
rs387906379	->T	Pathogenic	Coding sequence variant, stop gained
rs387906380	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508136	CGAGAGACCATGCAGAGGTCGCC>-	Pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant
rs397508137	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397508138	->G	Pathogenic	Frameshift variant, coding sequence variant
rs397508139	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs397508140	->ATTCACCACCAT	Pathogenic	Coding sequence variant, inframe insertion
rs397508141	TTGTCAGACATATACCAA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs397508144	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508146	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508148	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508154	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508158	G>A,C,T	Pathogenic, not-provided	Splice donor variant
rs397508161	A>G	Pathogenic	Intron variant
rs397508168	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508173	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508217	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508229	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397508233	A>G	Pathogenic	Splice acceptor variant
rs397508243	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs397508244	->T	Pathogenic	Intron variant
rs397508246	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508247	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508249	G>A	Pathogenic	Splice acceptor variant
rs397508250	A>C,G	Pathogenic	Splice acceptor variant
rs397508251	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508253	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508256	G>A,T	Pathogenic, drug-response	Missense variant, coding sequence variant, stop gained
rs397508257	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508258	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508261	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs397508263	G>A,C	Pathogenic	Splice donor variant
rs397508266	A>G	Pathogenic	Intron variant
rs397508267	A>C	Pathogenic	Missense variant, coding sequence variant
rs397508269	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508270	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508272	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508273	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397508274	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508276	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397508277	A>G	Pathogenic	Missense variant, coding sequence variant
rs397508278	T>A,C	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397508279	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508288	A>C,G	Pathogenic, drug-response	Missense variant, coding sequence variant
rs397508290	->T	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508294	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508295	TAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508296	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508298	A>C,G,T	Pathogenic, uncertain-significance	Intron variant
rs397508300	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs397508303	AAAACTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508306	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508308	C>G,T	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs397508310	A>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508316	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397508323	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508324	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508325	AACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508327	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs397508328	A>G	Pathogenic	Missense variant, initiator codon variant
rs397508331	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508333	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397508334	->C	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508336	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508339	->G	Pathogenic	Frameshift variant, coding sequence variant
rs397508341	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs397508342	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs397508343	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508344	AA>GT	Pathogenic	Coding sequence variant, stop gained
rs397508346	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508350	T>G	Pathogenic	Coding sequence variant, stop gained
rs397508353	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508354	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508355	GATACTGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508356	CTCGCATC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508357	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508360	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs397508364	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508365	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508371	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508375	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508378	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508381	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508382	A>T	Pathogenic	Coding sequence variant, stop gained
rs397508386	A>C,G	Likely-pathogenic	Splice acceptor variant
rs397508387	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508388	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397508389	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant, stop gained
rs397508391	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508393	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508394	C>A	Pathogenic	Coding sequence variant, stop gained
rs397508395	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508399	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508400	AATTTGGTGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508404	T>A,G	Pathogenic	Coding sequence variant, stop gained
rs397508405	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508412	T>A,C,G	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508413	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508414	->A	Conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant
rs397508416	G>C,T	Pathogenic	Splice acceptor variant
rs397508419	G>T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs397508422	C>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508426	A>C,G	Pathogenic	Splice acceptor variant
rs397508431	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs397508435	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs397508436	A>G	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs397508441	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508442	C>T	Pathogenic, drug-response	Missense variant, coding sequence variant
rs397508444	A>G,T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs397508445	ACATTCTGTTCTTCAAGCACCTATGTCAACCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508447	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508451	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508453	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508455	T>C,G	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs397508458	G>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs397508461	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508462	A>C,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508463	T>A	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508464	A>C,G	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs397508467	C>T	Pathogenic	Missense variant, coding sequence variant
rs397508468	G>T	Pathogenic	Missense variant, coding sequence variant
rs397508470	G>A	Pathogenic	Splice acceptor variant
rs397508472	AATT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs397508476	T>A,C,G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, initiator codon variant
rs397508477	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508479	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs397508480	C>A	Pathogenic	Missense variant, coding sequence variant
rs397508482	G>-	Likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs397508486	->A	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508488	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508490	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508493	TAGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508496	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397508498	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508499	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508500	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508503	G>A,T	Pathogenic, not-provided	Splice donor variant
rs397508505	GG>-	Pathogenic	Splice donor variant, coding sequence variant
rs397508506	G>A	Likely-pathogenic	Splice acceptor variant
rs397508510	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs397508513	A>C	Drug-response, not-provided	Missense variant, coding sequence variant
rs397508514	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508516	GCTTCCTA>-	Pathogenic, not-provided	Coding sequence variant, stop gained
rs397508517	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508518	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508520	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508522	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508524	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508525	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508528	T>A,C	Pathogenic-likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397508531	T>C,G	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508532	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508533	G>A,C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs397508535	A>C	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs397508536	A>T	Pathogenic	Coding sequence variant, stop gained
rs397508537	C>A	Conflicting-interpretations-of-pathogenicity, pathogenic, drug-response	Missense variant, coding sequence variant
rs397508538	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508541	C>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508544	T>A,C	Pathogenic	Splice donor variant
rs397508552	AC>GTA	Pathogenic	Frameshift variant, coding sequence variant
rs397508555	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397508556	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508557	TGA>-	Pathogenic, not-provided	Inframe deletion, coding sequence variant
rs397508559	->AGTA	Pathogenic	Frameshift variant, coding sequence variant
rs397508561	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508567	T>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508569	A>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508571	G>A,C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs397508572	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397508573	C>T	Pathogenic	Missense variant, coding sequence variant
rs397508575	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508578	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs397508579	A>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508581	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs397508587	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508588	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs397508589	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508595	A>G	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs397508596	T>C,G	Pathogenic	Intron variant
rs397508598	T>G	Pathogenic	Missense variant, coding sequence variant
rs397508600	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs397508601	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs397508602	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs397508604	T>G	Pathogenic	Coding sequence variant, stop gained
rs397508609	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508613	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508615	C>G,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs397508616	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508621	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508624	G>A	Pathogenic	Splice acceptor variant
rs397508630	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508633	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397508635	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508636	A>C,T	Likely-pathogenic, pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs397508637	A>-,AA	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508643	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397508645	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397508650	T>A,G	Likely-pathogenic, pathogenic	Splice donor variant
rs397508652	C>G	Pathogenic	Intron variant
rs397508653	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508657	G>A,T	Pathogenic, not-provided	Missense variant, initiator codon variant
rs397508658	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508661	G>-,GGGGG	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508662	CTAAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508666	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508668	TGTT>AA	Pathogenic	Frameshift variant, coding sequence variant
rs397508669	->T	Pathogenic	Coding sequence variant, stop gained
rs397508671	CTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508672	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508673	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508674	T>A,C,G	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs397508675	G>T	Pathogenic	Coding sequence variant, stop gained
rs397508678	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs397508683	C>A,G,T	Likely-pathogenic, not-provided	Synonymous variant, coding sequence variant, stop gained
rs397508684	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508685	->A	Pathogenic	Frameshift variant, coding sequence variant
rs397508686	->TAC	Pathogenic	Coding sequence variant, inframe insertion
rs397508689	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508693	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508695	TG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs397508699	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs397508700	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs397508701	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508702	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508705	A>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397508706	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508707	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397508708	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508709	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs397508714	T>-,TT,TTT	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397508716	G>A,T	Likely-pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant, stop gained
rs397508718	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs397508721	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508727	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs397508729	T>A,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs397508732	T>C,G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs397508734	G>A,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397508736	T>C	Pathogenic	Missense variant, coding sequence variant
rs397508740	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508744	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397508746	G>T	Pathogenic	Splice donor variant
rs397508750	TAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508755	C>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs397508758	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508759	G>A,T	Pathogenic, drug-response	Missense variant, coding sequence variant, stop gained
rs397508761	A>C,G,T	Pathogenic, not-provided	Intron variant
rs397508762	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508763	G>T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508764	A>G	Pathogenic	Missense variant, coding sequence variant
rs397508766	T>A,C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508767	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508771	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs397508775	G>A	Pathogenic	Coding sequence variant, stop gained
rs397508777	T>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs397508778	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508781	T>A	Pathogenic	Coding sequence variant, stop gained
rs397508782	T>G	Pathogenic	Missense variant, coding sequence variant
rs397508783	T>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397508791	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs397508794	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508796	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397508799	C>A	Pathogenic	Coding sequence variant, stop gained
rs397508804	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397508805	CTTAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397508808	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508809	GAAT>-	Pathogenic, not-provided	Intron variant
rs397508811	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, stop gained
rs397508815	C>T	Pathogenic	Coding sequence variant, stop gained
rs397508816	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397508820	T>A	Pathogenic	Coding sequence variant, stop gained
rs397508824	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397515498	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs533959068	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant
rs556880586	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs672601314	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs672601315	T>A,C	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs672601316	G>T	Pathogenic	Coding sequence variant, stop gained
rs672601317	G>A	Pathogenic	Coding sequence variant, stop gained
rs727504712	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs746418935	->A	Pathogenic	Coding sequence variant, frameshift variant
rs747754623	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs750558115	G>A	Pathogenic	Splice donor variant
rs750559671	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs754392413	TATGGAAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs755416052	A>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs758147990	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs759202870	A>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs759762840	TTT>-,TT,TTTT	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant
rs761669740	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs762844777	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs763843966	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs768963919	->T	Pathogenic	Coding sequence variant, frameshift variant
rs769693190	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs773739166	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant
rs774643457	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs779177972	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs780546355	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, splice donor variant
rs786204693	A>-,AA	Pathogenic	Coding sequence variant, stop gained, frameshift variant
rs796065332	AAATGATTGAAAA>TG	Pathogenic	Coding sequence variant, frameshift variant
rs797045156	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045159	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045160	G>A	Pathogenic	Splice acceptor variant
rs797045162	->C	Pathogenic	Coding sequence variant, frameshift variant
rs878854021	T>-	Uncertain-significance, pathogenic, likely-benign	Intron variant
rs886042527	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs895394181	A>G	Uncertain-significance, pathogenic	Intron variant
rs984281283	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1039221071	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1057516216	T>C	Likely-pathogenic	Splice donor variant
rs1057516232	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516236	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516387	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516415	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516457	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516609	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516619	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516646	A>G	Likely-pathogenic	Splice acceptor variant
rs1057516970	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517032	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517068	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1057517276	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517342	->TACA	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517404	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060503164	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs1199914684	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1204521684	T>A,C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1290078234	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1299250440	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1317756653	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1330431481	G>A,C,T	Pathogenic	Splice donor variant
rs1351058559	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1381239923	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1408746819	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1457520634	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1470125842	G>A	Pathogenic	Splice donor variant
rs1481564133	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554375870	->T	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs1554379846	->AC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554379887	TTAGTTTGATTTAT>-	Pathogenic	Coding sequence variant, stop gained
rs1554379899	A>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554380311	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554380465	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554380497	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554380515	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554380789	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554380828	A>C,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1554381596	A>G	Likely-pathogenic	Splice acceptor variant
rs1554388867	A>G	Pathogenic-likely-pathogenic	Intron variant
rs1554389062	T>A,C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Splice donor variant
rs1554389241	G>A	Likely-pathogenic	Splice acceptor variant
rs1554389296	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554389346	A>-,AA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554389411	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554389486	->CGAA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554389836	G>A	Pathogenic	Splice donor variant
rs1554390859	A>G	Pathogenic	Splice acceptor variant
rs1554390864	->TG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554390866	->A	Pathogenic	Splice donor variant
rs1554390958	A>G	Pathogenic	Splice acceptor variant
rs1554391033	ACCACT>TCAGA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554391454	TCTTAATAGATTCTCCAAAGATATAGCAATTTTGGAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554391489	CATCCAGGT>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1554391491	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554392027	GTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1554392248	CAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTA	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554392282	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554392798	G>A	Likely-pathogenic	Splice donor variant
rs1554392800	->T	Pathogenic, likely-pathogenic	Splice donor variant
rs1554392801	G>A	Pathogenic	Intron variant
rs1554396384	A>G	Likely-pathogenic	Splice acceptor variant
rs1554396393	->T	Pathogenic	Coding sequence variant, stop gained
rs1554397497	->CCTA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397515	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397527	TGGAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554397593	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397750	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397769	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554397772	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1562876396	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562876459	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1562882675	CTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAG>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1562882755	ATCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562884046	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562889180	AAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGAAGG>-	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant
rs1562889382	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562890223	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562891084	AGACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562892108	AACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACAG>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1562892293	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1562892359	->TATGA	Pathogenic	Coding sequence variant, frameshift variant
rs1562892387	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562906265	ACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGG>-	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant
rs1562907186	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1562907232	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562907260	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1562907873	G>T	Pathogenic	Coding sequence variant, stop gained
rs1562907896	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1562908889	AGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGAGG>-	Pathogenic	Splice acceptor variant, splice donor variant, coding sequence variant
rs1562908997	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562911661	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1562911739	CTAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562914028	TTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAG>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1562914072	CTATAGCAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1562914082	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562914107	T>G	Pathogenic	Coding sequence variant, stop gained
rs1562914200	C>A	Pathogenic	Coding sequence variant, stop gained
rs1562914641	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562914838	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1562919371	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562923164	T>A	Pathogenic	Coding sequence variant, stop gained
rs1562923253	T>A	Pathogenic	Coding sequence variant, missense variant
rs1562928854	TGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTA	Pathogenic	Splice acceptor variant, intron variant, splice donor variant, coding sequence variant
rs1562928927	T>-	Pathogenic	Coding sequence variant, stop gained
rs1562928997	G>A	Pathogenic	Splice donor variant
rs1562929196	G>A	Likely-pathogenic	Intron variant
rs1562929573	TCTTCCGGCAAGCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562929633	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562929636	TGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTTTAGAGAGCAGCATAAATGTTGACATGGGACATTTGCT>-	Likely-pathogenic	Terminator codon variant, 3 prime UTR variant, inframe indel, stop lost
rs1584764596	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1584776308	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584776437	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1584784850	TGTA>-	Pathogenic	Intron variant, splice acceptor variant
rs1584785072	TCCTACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584785196	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs1584786373	T>G	Pathogenic	Intron variant
rs1584786454	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1584786892	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1584787119	T>C	Likely-pathogenic	Splice donor variant
rs1584787657	C>GCTGGGAAGAT	Pathogenic	Coding sequence variant, frameshift variant
rs1584787716	C>T	Pathogenic	Stop gained, coding sequence variant
rs1584787782	T>G	Pathogenic	Stop gained, coding sequence variant
rs1584789180	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1584789226	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584789267	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584789514	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584810167	->TA	Pathogenic	Stop gained, coding sequence variant
rs1584812217	->TA	Pathogenic	Coding sequence variant, frameshift variant
rs1584812361	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584812425	C>T	Pathogenic	Stop gained, coding sequence variant
rs1584812646	C>T	Pathogenic	Stop gained, coding sequence variant
rs1584812696	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584812777	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584812778	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584813819	T>G	Pathogenic	Stop gained, coding sequence variant
rs1584817344	->TG	Pathogenic	Coding sequence variant, frameshift variant
rs1584819340	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584821306	A>T	Pathogenic	Intron variant
rs1584822237	->TTTTAAGCTTAAAAGG	Pathogenic	Coding sequence variant, frameshift variant
rs1584822486	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1584824301	T>C	Pathogenic	Splice donor variant
rs1584829874	ACAGCATTGTGCAGTGCTGCTCATAGTAGAAATAAAT>-	Pathogenic	Intron variant
rs1584830149	AA>G	Pathogenic	Coding sequence variant, frameshift variant
rs1584830154	AA>G	Pathogenic	Coding sequence variant, frameshift variant
rs1584836927	->ATCAG	Pathogenic	Coding sequence variant, frameshift variant
rs1584837090	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1584837173	C>T	Pathogenic	Stop gained, coding sequence variant
rs1584848754	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584848901	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584849005	G>A	Pathogenic	Intron variant
rs1584850172	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1584850283	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007361	hsa-miR-433-3p	Luciferase reporter assay	23555973
MIRT007363	hsa-miR-509-3p	Luciferase reporter assay	23555973
MIRT017834	hsa-miR-335-5p	Microarray	18185580
MIRT021816	hsa-miR-132-3p	Microarray	17612493
MIRT054057	hsa-miR-101-3p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23226399
MIRT054058	hsa-miR-144-3p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23226399
MIRT438884	hsa-miR-494-3p	Luciferase reporter assay, qRT-PCR	23436935
MIRT438885	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR	23436935
MIRT438886	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR	23436935

Transcription factors

Show/Hide all(19)

Transcription factor	Regulation	Reference
ATF1	Activation	10075672
CDX2	Activation	22671145
CUX1	Unknown	10075672
FOXA1	Repression	24440874
FOXA2	Repression	24440874
FOXI1	Repression	20972246
NFE2L2	Activation	20309604
NFE2L2	Repression	20309604
NFKB1	Activation	11114294
RELA	Activation	11114294
SP1	Unknown	16877677
SP3	Unknown	16877677
SRF	Unknown	16170155
STAT1	Activation	19061877
STAT1	Repression	19061877
TFAP2A	Unknown	10652362
USF2	Unknown	23560079
YY1	Activation	10652351;20309604
YY1	Unknown	16170155;23560079

Show/Hide all(72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IDA	11524016, 11707463, 15010471, 18570918, 19019741, 22178883
GO:0005254	Function	Chloride channel activity	IMP	19621064, 24885604
GO:0005260	Function	Intracellularly ATP-gated chloride channel activity	IMP	8910473
GO:0005260	Function	Intracellularly ATP-gated chloride channel activity	NAS	11707463
GO:0005515	Function	Protein binding	IPI	9671706, 9792704, 11707463, 12369822, 12471024, 15247260, 16203867, 16546175, 16901789, 17110338, 17244609, 18555783, 19289574, 19878303, 20658517, 21884936, 22038833, 22121115, 22178883, 22768251, 25661196, 25712891, 27092946, 29924966
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	18570918
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005769	Component	Early endosome	IDA	19398555
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11707463
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	24885604
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	21884936, 22178883, 24885604, 28067262, 28130590
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	11524016, 15010471
GO:0005887	Component	Integral component of plasma membrane	IMP	11707463
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0009986	Component	Cell surface	IDA	20658517
GO:0010008	Component	Endosome membrane	TAS
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IDA	15010471, 19019741
GO:0015106	Function	Bicarbonate transmembrane transporter activity	ISS
GO:0015108	Function	Chloride transmembrane transporter activity	ISS
GO:0015108	Function	Chloride transmembrane transporter activity	TAS
GO:0015701	Process	Bicarbonate transport	IBA	21873635
GO:0015701	Process	Bicarbonate transport	IDA	15010471, 19019741
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IDA	8910473
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	IDA	12801959, 15247260, 18570918, 20658517, 28130590
GO:0016324	Component	Apical plasma membrane	IMP	19621064
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATPase activity	IDA	8910473, 11524016
GO:0017081	Function	Chloride channel regulator activity	TAS
GO:0019869	Function	Chloride channel inhibitor activity	IDA	22178883
GO:0019899	Function	Enzyme binding	IPI	19398555
GO:0030165	Function	PDZ domain binding	IDA	11707463
GO:0030301	Process	Cholesterol transport	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	TAS
GO:0030665	Component	Clathrin-coated vesicle membrane	TAS
GO:0031901	Component	Early endosome membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	17462998
GO:0034707	Component	Chloride channel complex	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	21884936, 28067262
GO:0035377	Process	Transepithelial water transport	IMP	19621064
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IGI	24885604
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	24885604
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0045921	Process	Positive regulation of exocytosis	IMP	24885604
GO:0048240	Process	Sperm capacitation	ISS
GO:0050891	Process	Multicellular organismal water homeostasis	IMP	19621064
GO:0051087	Function	Chaperone binding	IPI	16207813
GO:0051454	Process	Intracellular pH elevation	ISS
GO:0055037	Component	Recycling endosome	IDA	18570918
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0060081	Process	Membrane hyperpolarization	ISS
GO:0061024	Process	Membrane organization	TAS
GO:0071320	Process	Cellular response to cAMP	ISS
GO:0106138	Function	Sec61 translocon complex binding	IDA	9792704
GO:1902161	Process	Positive regulation of cyclic nucleotide-gated ion channel activity	IMP	24885604
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1902476	Process	Chloride transmembrane transport	IDA	11524016, 11707463, 19019741
GO:1902476	Process	Chloride transmembrane transport	IMP	19621064, 24885604
GO:1902943	Process	Positive regulation of voltage-gated chloride channel activity	IDA	22006324
GO:1904322	Process	Cellular response to forskolin	IDA	15010471, 19621064

MIM	HGNC	e!Ensembl
602421	1884	ENSG00000001626

Protein

UniProt ID

P13569

Protein name

Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 5.6.1.6) (cAMP-dependent chloride channel)

Protein function

Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810).

PDB

1NBD , 1XMI , 1XMJ , 2BBO , 2BBS , 2BBT , 2LOB , 2PZE , 2PZF , 2PZG , 3GD7 , 3ISW , 4WZ6 , 5D2D , 5D3E , 5D3F , 5TF7 , 5TF8 , 5TFA , 5TFB , 5TFC , 5TFD , 5TFF , 5TFG , 5TFI , 5TFJ , 5TGK , 5UAK , 6GJQ , 6GJS , 6GJU , 6GK4 , 6GKD , 6HEP , 6MSM , 6O1V , 6O2P , 6UK1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	81 → 350	ABC transporter transmembrane region	Family
PF00005	ABC_tran	441 → 576	ABC transporter	Domain
PF14396	CFTR_R	639 → 849	Cystic fibrosis TM conductance regulator (CFTR), regulator domain	Domain
PF00664	ABC_membrane	862 → 1147	ABC transporter transmembrane region	Family
PF00005	ABC_tran	1227 → 1374	ABC transporter	Domain

Sequence

MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE
LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA
IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL
VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA
YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT
WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK
TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV
LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR
ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS
ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG
QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI
PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN
NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV
PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK
ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM
STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL
LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD
EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT
YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL

Sequence length

1480

Interactions

View interactions

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