Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1767
Gene name	Dynein axonemal heavy chain 5
Gene symbol	DNAH5
Synonyms (NCBI Gene)	CILD3DNAHC5HL1KTGNRPCD
Chromosome	5
Chromosome location	5p15.2
Summary	This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase

184

Show/Hide all (184)

SNP ID	Visualize variation	Clinical significance	Consequence
rs77939839	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs78484669	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs79967166	C>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs112217391	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs116128702	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs116524991	C>A,T	Likely-benign, pathogenic	Missense variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant, non coding transcript variant
rs121908853	G>A,C	Pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs138890576	A>G	Pathogenic, likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs140782270	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs141571121	T>C	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs142852982	T>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs146087064	G>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs146392250	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs147236883	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs147688221	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, intron variant, genic downstream transcript variant
rs148720124	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs148891849	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic, benign, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, missense variant, stop gained, genic upstream transcript variant
rs200901816	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs201077964	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs367877988	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs367913308	T>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs369312501	T>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs369683202	G>A	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs372118787	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs374718437	C>T	Pathogenic	Intron variant, genic downstream transcript variant
rs375053470	G>A	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, stop gained
rs397515540	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs397515541	C>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs548521732	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs560398270	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs565076112	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs571919972	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs574586008	C>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs575017579	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs578128759	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs672601333	->A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs727502971	GTCT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs727502973	G>C	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs727502974	T>C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs727502975	GCCGCCCCCGCGCTCCACAGC>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs727502977	C>-	Pathogenic-likely-pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs727504802	C>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs745885469	C>A,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs745918507	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs747900131	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs748171209	T>C	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, intron variant
rs748618094	T>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs748763552	A>G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs749082955	->T	Pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, frameshift variant
rs750649191	C>A	Pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs751785066	C>G,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs752925056	->T	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs753130398	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs753397685	C>A,G,T	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs753614861	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs754698253	A>-	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs754982008	A>C	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs755136231	TTTGGTTC>-	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs755407407	C>G	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs755490391	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, synonymous variant
rs755596256	C>A,T	Pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs756032160	G>A	Pathogenic, uncertain-significance	Stop gained, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs757801770	T>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs759059925	C>A,T	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs760595654	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, 3 prime UTR variant
rs760742856	TGAG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs761622153	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs762081081	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs762673561	C>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs764948792	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs766451124	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs767019228	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs767716511	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs767779749	AG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs768881056	TT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs769054713	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs769267893	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs769458738	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs769691189	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs769691641	A>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs771663107	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs771956532	G>A,C,T	Pathogenic, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic upstream transcript variant, 5 prime UTR variant
rs772230378	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, genic upstream transcript variant
rs773208371	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs773711154	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs774493427	AA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs775696136	->A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs775866092	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs775946081	G>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs776686983	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs778780449	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs779506456	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs781469274	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs863224503	T>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs863224504	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs864622512	->A	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs878854457	C>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs878854458	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878854459	A>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886039500	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs886043448	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs886059965	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs914675446	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs981267400	A>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs989235687	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs1057520697	C>A	Pathogenic	Splice acceptor variant
rs1060501454	C>A,G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs1060501455	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1060501456	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1060501457	CC>T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060501458	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1060501459	->AT	Pathogenic	Genic downstream transcript variant, downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1060501460	A>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained
rs1060501461	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060501464	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained
rs1060501466	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1060501467	C>A,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs1064795496	C>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1161303371	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1164037667	T>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1175877764	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1188507108	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1193586811	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1252973555	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1273352530	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1283070426	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1285287334	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1304504006	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1305797678	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, frameshift variant
rs1309660408	G>A,C	Pathogenic	Missense variant, downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1353723750	CTTT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1354919632	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1370489117	C>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1391084505	CTGT>-	Pathogenic	Non coding transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs1443540935	CTCT>-	Pathogenic	Frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, terminator codon variant
rs1462578042	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1474945018	T>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1484826593	A>C,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554017211	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554020233	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554033855	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554035330	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554049087	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554050517	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554062097	GTCA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554072027	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554074565	G>C	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1554081658	G>-	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1554082275	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554082872	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554090622	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554090927	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1554101045	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1561073938	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1561097225	C>G	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs1561122898	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, genic downstream transcript variant
rs1561215953	T>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1561241156	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1561449604	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1561476089	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1561477725	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1561487416	->CA	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1561524235	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1561532139	AAAAACTATCTTGTACTTAAATGGGAACTACTGATTCCCTCCTGCTGCTCCAAATACACTAGTTTCGGTTTTCGCCATCTCCATAACTTGAACTTACAGTCAGGGCCCCTGCATGGTATTGTGCAAGTTATGAAGAATGCAACCTACACAGCATTCTACGGCACCCCTGCTTTAATTCATGGAACTGCTCACACCAAAACCACAGGTATTATTCCTGAGTTCTCTTATAACCTGACTGTTGACATAACTCTAAAT	Pathogenic	Intron variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, splice donor variant
rs1579881985	CT>-	Pathogenic	Intron variant, frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1579894454	C>G,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1579942226	T>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1579942510	G>T	Pathogenic	Intron variant, genic downstream transcript variant, stop gained, coding sequence variant
rs1579980919	GGTACTTG>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1580072662	TTGTGTCTGCATC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1580143916	ATTC>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, downstream transcript variant
rs1580150353	G>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1580179985	A>G	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1580180757	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1580203399	C>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1580363231	ACAGCCGCCCCAGGT>G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1580457416	CA>-	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, inframe indel
rs1580465796	T>C	Likely-pathogenic	Splice acceptor variant
rs1580543538	G>C	Pathogenic	Intron variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1580543863	->T	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs1580578744	A>T	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1580731750	CGCT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580809557	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1580853061	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022734	hsa-miR-124-3p	Microarray	18668037
MIRT939592	hsa-miR-1290	CLIP-seq
MIRT939593	hsa-miR-1304	CLIP-seq
MIRT939594	hsa-miR-3167	CLIP-seq
MIRT939595	hsa-miR-3616-3p	CLIP-seq
MIRT939596	hsa-miR-3691-5p	CLIP-seq
MIRT939597	hsa-miR-4721	CLIP-seq
MIRT939598	hsa-miR-4752	CLIP-seq
MIRT939599	hsa-miR-876-5p	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	11062149, 15750039, 16627867, 23261302
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IDA	29916806
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	15750039, 16492982, 18950741, 23849778, 24203976, 26387594, 26909801, 29916806, 31178125
GO:0005930	Component	Axoneme	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	11788826, 17515466, 22499950
GO:0007507	Process	Heart development	IEA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0021670	Process	Lateral ventricle development	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	15750039, 18492703
GO:0031514	Component	Motile cilium	IDA	31178125
GO:0036157	Component	Outer dynein arm	IBA
GO:0036157	Component	Outer dynein arm	IDA	16627867
GO:0036157	Component	Outer dynein arm	IEA
GO:0036157	Component	Outer dynein arm	IMP	11062149, 11788826, 22499950
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IMP	11062149, 11788826, 15750039, 16627867, 18950741, 22499950, 23261302
GO:0042995	Component	Cell projection	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0060271	Process	Cilium assembly	IMP	16492982
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0097386	Component	Glial cell projection	IEA
GO:0097728	Component	9+0 motile cilium	IEA
GO:0097729	Component	9+2 motile cilium	IBA
GO:0097729	Component	9+2 motile cilium	IDA	26909801
GO:0097729	Component	9+2 motile cilium	IEA

MIM	HGNC	e!Ensembl
603335	2950	ENSG00000039139

Q8TE73

Protein name

Dynein axonemal heavy chain 5 (Axonemal beta dynein heavy chain 5) (Ciliary dynein heavy chain 5)

Protein function

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional inte

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08385	DHC_N1	250 → 802	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1402 → 1807	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1942 → 2269	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2424 → 2544	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2551 → 2732		Domain
PF17857	AAA_lid_1	2766 → 2862	AAA+ lid domain	Domain
PF12780	AAA_8	2926 → 3188	P-loop containing dynein motor region D4	Domain
PF12777	MT	3201 → 3549	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3574 → 3795	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	4040 → 4150	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	4164 → 4320	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4326 → 4621	Dynein heavy chain C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in airway epithelial cells (at protein level). Not detected in spermatozoa (at protein level). {ECO:0000269|PubMed:31178125}.

Sequence

MFRIGRRQLWKHSVTRVLTQRLKGEKEAKRALLDARHNYLFAIVASCLDLNKTEVEDAIL
EGNQIERIDQLFAVGGLRHLMFYYQDVEEAETGQLGSLGGVNLVSGKIKKPKVFVTEGND
VALTGVCVFFIRTDPSKAITPDNIHQEVSFNMLDAADGGLLNSVRRLLSDIFIPALRATS
HGWGELEGLQDAANIRQEFLSSLEGFVNVLSGAQESLKEKVNLRKCDILELKTLKEPTDY
LTLANNPETLGKIEDCMKVWIKQTEQVLAENNQLLKEADDVGPRAELEHWKKRLSKFNYL
LEQLKSPDVKAVLAVLAAAKSKLLKTWREMDIRITDATNEAKDNVKYLYTLEKCCDPLYS
SDPLSMMDAIPTLINAIKMIYSISHYYNTSEKITSLFVKVTNQIISACKAYITNNGTASI
WNQPQDVVEEKILSAIKLKQEYQLCFHKTKQKLKQNPNAKQFDFSEMYIFGKFETFHRRL
AKIIDIFTTLKTYSVLQDSTIEGLEDMATKYQGIVATIKKKEYNFLDQRKMDFDQDYEEF
CKQTNDLHNELRKFMDVTFAKIQNTNQALRMLKKFERLNIPNLGIDDKYQLILENYGADI
DMISKLYTKQKYDPPLARNQPPIAGKILWARQLFHRIQQPMQLFQQHPAVLSTAEAKPII
RSYNRMAKVLLEFEVLFHRAWLRQIEEIHVGLEASLLVKAPGTGELFVNFDPQILILFRE
TECMAQMGLEVSPLATSLFQKRDRYKRNFSNMKMMLAEYQRVKSKIPAAIEQLIVPHLAK
VDEALQPGLAALTWTSLNIEAYLENTFAKIKDLELLLDRVNDLIEFRIDAILEEMSSTPL
CQLPQEEPLTCEEFLQMTKDLCVNGAQILHFKSSLVEEAVNELVNMLLDVEVLSEEESEK
ISNENSVNYKNESSAKREEGNFDTLTSSINARANALLLTTVTRKKKETEMLGEEARELLS
HFNHQNMDALLKVTRNTLEAIRKRIHSSHTINFRDSNSASNMKQNSLPIFRASVTLAIPN
IVMAPALEDVQQTLNKAVECIISVPKGVRQWSSELLSKKKIQERKMAALQSNEDSDSDVE
MGENELQDTLEIASVNLPIPVQTKNYYKNVSENKEIVKLVSVLSTIINSTKKEVITSMDC
FKRYNHIWQKGKEEAIKTFITQSPLLSEFESQILYFQNLEQEINAEPEYVCVGSIALYTA
DLKFALTAETKAWMVVIGRHCNKKYRSEMENIFMLIEEFNKKLNRPIKDLDDIRIAMAAL
KEIREEQISIDFQVGPIEESYALLNRYGLLIAREEIDKVDTLHYAWEKLLARAGEVQNKL
VSLQPSFKKELISAVEVFLQDCHQFYLDYDLNGPMASGLKPQEASDRLIMFQNQFDNIYR
KYITYTGGEELFGLPATQYPQLLEIKKQLNLLQKIYTLYNSVIETVNSYYDILWSEVNIE
KINNELLEFQNRCRKLPRALKDWQAFLDLKKIIDDFSECCPLLEYMASKAMMERHWERIT
TLTGHSLDVGNESFKLRNIMEAPLLKYKEEIEDICISAVKERDIEQKLKQVINEWDNKTF
TFGSFKTRGELLLRGDSTSEIIANMEDSLMLLGSLLSNRYNMPFKAQIQKWVQYLSNSTD
IIESWMTVQNLWIYLEAVFVGGDIAKQLPKEAKRFSNIDKSWVKIMTRAHEVPSVVQCCV
GDETLGQLLPHLLDQLEICQKSLTGYLEKKRLCFPRFFFVSDPALLEILGQASDSHTIQA
HLLNVFDNIKSVKFHEKIYDRILSISSQEGETIELDKPVMAEGNVEVWLNSLLEESQSSL
HLVIRQAAANIQETGFQLTEFLSSFPAQVGLLGIQMIWTRDSEEALRNAKFDKKIMQKTN
QAFLELLNTLIDVTTRDLSSTERVKYETLITIHVHQRDIFDDLCHMHIKSPMDFEWLKQC
RFYFNEDSDKMMIHITDVAFIYQNEFLGCTDRLVITPLTDRCYITLAQALGMSMGGAPAG
PAGTGKTETTKDMGRCLGKYVVVFNCSDQMDFRGLGRIFKGLAQSGSWGCFDEFNRIDLP
VLSVAAQQISIILTCKKEHKKSFIFTDGDNVTMNPEFGLFLTMNPGYAGRQELPENLKIN
FRSVAMMVPDRQIIIRVKLASCGFIDNVVLARKFFTLYKLCEEQLSKQVHYDFGLRNILS
VLRTLGAAKRANPMDTESTIVMRVLRDMNLSKLIDEDEPLFLSLIEDLFPNILLDKAGYP
ELEAAISRQVEEAGLINHPPWKLKVIQLFETQRVRHGMMTLGPSGAGKTTCIHTLMRAMT
DCGKPHREMRMNPKAITAPQMFGRLDVATNDWTDGIFSTLWRKTLRAKKGEHIWIILDGP
VDAIWIENLNSVLDDNKTLTLANGDRIPMAPNCKIIFEPHNIDNASPATVSRNGMVFMSS
SILDWSPILEGFLKKRSPQEAEILRQLYTESFPDLYRFCIQNLEYKMEVLEAFVITQSIN
MLQGLIPLKEQGGEVSQAHLGRLFVFALLWSAGAALELDGRRRLELWLRSRPTGTLELPP
PAGPGDTAFDYYVAPDGTWTHWNTRTQEYLYPSDTTPEYGSILVPNVDNVRTDFLIQTIA
KQGKAVLLIGEQGTAKTVIIKGFMSKYDPECHMIKSLNFSSATTPLMFQRTIESYVDKRM
GTTYGPPAGKKMTVFIDDVNMPIINEWGDQVTNEIVRQLMEQNGFYNLEKPGEFTSIVDI
QFLAAMIHPGGGRNDIPQRLKRQFSIFNCTLPSEASVDKIFGVIGVGHYCTQRGFSEEVR
DSVTKLVPLTRRLWQMTKIKMLPTPAKFHYVFNLRDLSRVWQGMLNTTSEVIKEPNDLLK
LWKHECKRVIADRFTVSSDVTWFDKALVSLVEEEFGEEKKLLVDCGIDTYFVDFLRDAPE
AAGETSEEADAETPKIYEPIESFSHLKERLNMFLQLYNESIRGAGMDMVFFADAMVHLVK
ISRVIRTPQGNALLVGVGGSGKQSLTRLASFIAGYVSFQITLTRSYNTSNLMEDLKVLYR
TAGQQGKGITFIFTDNEIKDESFLEYMNNVLSSGEVSNLFARDEIDEINSDLASVMKKEF
PRCLPTNENLHDYFMSRVRQNLHIVLCFSPVGEKFRNRALKFPALISGCTIDWFSRWPKD
ALVAVSEHFLTSYDIDCSLEIKKEVVQCMGSFQDGVAEKCVDYFQRFRRSTHVTPKSYLS
FIQGYKFIYGEKHVEVRTLANRMNTGLEKLKEASESVAALSKELEAKEKELQVANDKADM
VLKEVTMKAQAAEKVKAEVQKVKDRAQAIVDSISKDKAIAEEKLEAAKPALEEAEAALQT
IRPSDIATVRTLGRPPHLIMRIMDCVLLLFQRKVSAVKIDLEKSCTMPSWQESLKLMTAG
NFLQNLQQFPKDTINEEVIEFLSPYFEMPDYNIETAKRVCGNVAGLCSWTKAMASFFSIN
KEVLPLKANLVVQENRHLLAMQDLQKAQAELDDKQAELDVVQAEYEQAMTEKQTLLEDAE
RCRHKMQTASTLISGLAGEKERWTEQSQEFAAQTKRLVGDVLLATAFLSYSGPFNQEFRD
LLLNDWRKEMKARKIPFGKNLNLSEMLIDAPTISEWNLQGLPNDDLSIQNGIIVTKASRY
PLLIDPQTQGKIWIKNKESRNELQITSLNHKYFRNHLEDSLSLGRPLLIEDVGEELDPAL
DNVLERNFIKTGSTFKVKVGDKEVDVLDGFRLYITTKLPNPAYTPEISARTSIIDFTVTM
KGLEDQLLGRVILTEKQELEKERTHLMEDVTANKRRMKELEDNLLYRLTSTQGSLVEDES
LIVVLSNTKRTAEEVTQKLEISAETEVQINSAREEYRPVATRGSILYFLITEMRLVNEMY
QTSLRQFLGLFDLSLARSVKSPITSKRIANIIEHMTYEVYKYAARGLYEEHKFLFTLLLT
LKIDIQRNRVKHEEFLTLIKGGASLDLKACPPKPSKWILDITWLNLVELSKLRQFSDVLD
QISRNEKMWKIWFDKENPEEEPLPNAYDKSLDCFRRLLLIRSWCPDRTIAQARKYIVDSM
GEKYAEGVILDLEKTWEESDPRTPLICLLSMGSDPTDSIIALGKRLKIETRYVSMGQGQE
VHARKLLQQTMANGGWALLQNCHLGLDFMDELMDIIIETELVHDAFRLWMTTEAHKQFPI
TLLQMSIKFANDPPQGLRAGLKRTYSGVSQDLLDVSSGSQWKPMLYAVAFLHSTVQERRK
FGALGWNIPYEFNQADFNATVQFIQNHLDDMDVKKGVSWTTIRYMIGEIQYGGRVTDDYD
KRLLNTFAKVWFSENMFGPDFSFYQGYNIPKCSTVDNYLQYIQSLPAYDSPEVFGLHPNA
DITYQSKLAKDVLDTILGIQPKDTSGGGDETREAVVARLADDMLEKLPPDYVPFEVKERL
QKMGPFQPMNIFLRQEIDRMQRVLSLVRSTLTELKLAIDGTIIMSENLRDALDCMFDARI
PAWWKKASWISSTLGFWFTELIERNSQFTSWVFNGRPHCFWMTGFFNPQGFLTAMRQEIT
RANKGWALDNMVLCNEVTKWMKDDISAPPTEGVYVYGLYLEGAGWDKRNMKLIESKPKVL
FELMPVIRIYAENNTLRDPRFYSCPIYKKPVRTDLNYIAAVDLRTAQTPEHWVLRGVALL
CDVK

Sequence length

4624

Interactions

View interactions

	KEGG
	Motor proteins Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases

6501

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DNAH5-related disorder	Likely pathogenic; Pathogenic	rs749711805, rs2151977668, rs727504802, rs769054713, rs2546881907, rs1375859408, rs376118760, rs2546843111, rs1777387465, rs2546806383, rs775696136, rs2546999694, rs2546882158, rs1060501459, rs575017579 View all (10 more)	RCV003898365 RCV003408013 RCV004742284 RCV004742300 RCV003404013 RCV003404257 RCV003419133 RCV003410386 RCV003391486 RCV003391497 RCV004742395 RCV003909224 RCV003893890 RCV004742424 RCV004742451 RCV003935395 RCV004742486 RCV004742538 RCV004742541 RCV003403594 RCV003983174 RCV003983207 RCV003405268 RCV003398948 RCV004726971
Glycine encephalopathy 1	Pathogenic	rs760595654	RCV005256684
Heterotaxy	Pathogenic	rs775946081, rs1060501464	RCV001731458 RCV001731690
Infertility disorder	Likely pathogenic; Pathogenic	rs745918507	RCV001327941
Kartagener syndrome	Pathogenic; Likely pathogenic	rs771663107, rs773208371, rs1554082275	RCV000190910 RCV000578182 RCV000578159
Lung cancer	Pathogenic; Likely pathogenic	rs1057520697, rs397515541	RCV005896257 RCV005890376
Male infertility	Pathogenic	rs748618094	RCV001283735
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs758112779, rs1219958424, rs2126503314, rs2126606448, rs2126610509, rs2126694391, rs914675446, rs2151814082, rs2151835519, rs2151911687, rs2151914274, rs2151981226, rs2126409121, rs1743038020, rs2126493943 View all (639 more)	RCV001376959 RCV001379179 RCV001378540 RCV001376934 RCV001379101 RCV001378608 RCV001377187 RCV001379561 RCV001379932 RCV001377082 RCV001378575 RCV001377584 RCV001386666 RCV001388070 RCV001387302 RCV001390156 RCV001385760 RCV001385303 RCV001384182 RCV001388540 RCV001389046 RCV001386219 RCV001389475 RCV001384025 RCV001382450 RCV001387064 RCV001389949 RCV001385491 RCV001390675 RCV001389501 RCV001385060 RCV001386534 RCV001385979 RCV001386279 RCV001386668 RCV001382794 RCV001382388 RCV001381691 RCV001389011 RCV001382829 RCV001387651 RCV001383514 RCV001385978 RCV001380903 RCV001389483 RCV001388131 RCV001385898 RCV001388323 RCV001382108 RCV001388278 RCV001381738 RCV001388779 RCV001382991 RCV001390018 RCV001384734 RCV001385023 RCV001383017 RCV001383682 RCV001859361 RCV002421183 RCV001580344 RCV001869647 RCV001849586 RCV001849587 RCV001849588 RCV001849589 RCV001849590 RCV001849591 RCV001849592 RCV001885424 RCV001885425 RCV001920562 RCV001902763 RCV001958053 RCV001974937 RCV002015486 RCV002050355 RCV001894259 RCV001994566 RCV001994613 RCV001929586 RCV001941637 RCV001941638 RCV001941682 RCV001864772 RCV001921110 RCV001960454 RCV001900128 RCV001952980 RCV001900048 RCV002049980 RCV001935013 RCV001946771 RCV001950949 RCV002018232 RCV001907348 RCV001992469 RCV001982428 RCV001958459 RCV001897039 RCV001953724 RCV001949236 RCV001953779 RCV001949318 RCV001964367 RCV001999302 RCV002019866 RCV001932540 RCV001947450 RCV001961875 RCV002011935 RCV002045266 RCV001932397 RCV001947114 RCV002051503 RCV001893388 RCV001944682 RCV001929057 RCV001993265 RCV002007258 RCV002007355 RCV002006959 RCV001864474 RCV001915228 RCV002037871 RCV001994820 RCV001993216 RCV001993242 RCV001877222 RCV002037742 RCV001994714 RCV001983809 RCV001916185 RCV001891702 RCV002035473 RCV002007584 RCV002016211 RCV001939646 RCV001942181 RCV001942209 RCV001941875 RCV001942014 RCV001864544 RCV002002470 RCV002037952 RCV001960499 RCV001939346 RCV001951251 RCV001972366 RCV001864061 RCV001972835 RCV001949516 RCV001956199 RCV001956202 RCV001956203 RCV001906686 RCV001959019 RCV002044869 RCV001889208 RCV001902097 RCV001949580 RCV001958770 RCV001958774 RCV001975103 RCV001984600 RCV001909665 RCV001863336 RCV001863450 RCV001886536 RCV001911845 RCV001913965 RCV001918612 RCV002003960 RCV001948687 RCV002024945 RCV002024948 RCV000150472 RCV000150465 RCV000156128 RCV000150491 RCV003120889 RCV005058262 RCV003534856 RCV002329907 RCV002337548 RCV002375539 RCV002347164 RCV002355719 RCV002338038 RCV002335828 RCV002346806 RCV002337672 RCV002362292 RCV002396213 RCV002430392 RCV002434860 RCV002373560 RCV002386982 RCV002419220 RCV002383035 RCV002383046 RCV002387539 RCV002392578 RCV002426194 RCV000168445 RCV003073728 RCV003077641 RCV003086122 RCV003070528 RCV003079059 RCV002581874 RCV003073377 RCV003084427 RCV002599958 RCV002612054 RCV002651852 RCV002664356 RCV002580824 RCV002589087 RCV002593310 RCV002590697 RCV002594447 RCV002616892 RCV002634500 RCV002618653 RCV002635316 RCV002638775 RCV002614723 RCV002658206 RCV002662473 RCV002662497 RCV002715233 RCV002716328 RCV002760740 RCV002745513 RCV002761704 RCV002800274 RCV002800242 RCV002801017 RCV002824491 RCV002837479 RCV002801088 RCV002791550 RCV002823799 RCV000814567 RCV002815973 RCV002843103 RCV002838695 RCV002839412 RCV002862295 RCV002847529 RCV002847652 RCV002865995 RCV002857193 RCV002857909 RCV002858081 RCV002871757 RCV002898621 RCV002913545 RCV002886626 RCV002912621 RCV002909063 RCV002885201 RCV002899338 RCV000197324 RCV000198195 RCV000198869 RCV003017871 RCV002999925 RCV002979257 RCV003011482 RCV003015583 RCV003020499 RCV002991523 RCV003016949 RCV003010216 RCV003018829 RCV003006450 RCV003011614 RCV001851706 RCV001851707 RCV001851708 RCV003009974 RCV003016387 RCV003027195 RCV003014987 RCV003017446 RCV003026944 RCV003042762 RCV003030414 RCV003030436 RCV003054922 RCV003050337 RCV003040859 RCV000206107 RCV000203745 RCV000204721 RCV000205189 RCV000465747 RCV000214042 RCV000233866 RCV000231062 RCV000232132 RCV000231665 RCV000234001 RCV000234185 RCV000229823 RCV000234255 RCV001216552 RCV003649452 RCV003448945 RCV003448946 RCV003536127 RCV003536235 RCV003536286 RCV003535048 RCV003536063 RCV003536111 RCV003536216 RCV003536218 RCV003536222 RCV003536158 RCV003536262 RCV003536319 RCV003535067 RCV003536040 RCV003536087 RCV003536244 RCV003536445 RCV003537826 RCV003536482 RCV003536472 RCV003537675 RCV003536398 RCV003536520 RCV003537607 RCV003537856 RCV003537919 RCV003539000 RCV003539102 RCV003538892 RCV003538990 RCV003535157 RCV003535207 RCV003536574 RCV003535545 RCV003535525 RCV003535450 RCV003535509 RCV003536819 RCV003536981 RCV003537031 RCV003536567 RCV003536568 RCV003536807 RCV003536864 RCV003536636 RCV003536701 RCV003536798 RCV003536851 RCV003536908 RCV003536950 RCV003537006 RCV003536670 RCV003536736 RCV003536784 RCV003538286 RCV003538298 RCV003538162 RCV003538263 RCV003538029 RCV003538081 RCV003538084 RCV003538090 RCV003538094 RCV003538144 RCV003538179 RCV003648090 RCV003648212 RCV003648080 RCV003647441 RCV000377034 RCV003647337 RCV003647436 RCV003647509 RCV003647502 RCV003647320 RCV003647358 RCV003649730 RCV003649759 RCV003647650 RCV003647656 RCV003649718 RCV003649791 RCV003649826 RCV003649713 RCV003649732 RCV003649733 RCV003650843 RCV003650850 RCV003650878 RCV003651129 RCV003649846 RCV003650871 RCV003651006 RCV003651072 RCV003651256 RCV003651296 RCV003651214 RCV003652383 RCV003652423 RCV003651236 RCV003651314 RCV003651225 RCV003651306 RCV003652367 RCV003652487 RCV003652625 RCV003652703 RCV003652619 RCV003652784 RCV000807221 RCV003652458 RCV003652641 RCV003652648 RCV003652492 RCV003652499 RCV003652547 RCV003653691 RCV003653895 RCV003653761 RCV003653770 RCV003653881 RCV003653929 RCV003653935 RCV003654030 RCV003649877 RCV003654042 RCV003654046 RCV003649867 RCV003649936 RCV003649984 RCV003650084 RCV003650119 RCV003650248 RCV003651513 RCV003651339 RCV003651560 RCV003652868 RCV003653101 RCV003652848 RCV003827986 RCV003825455 RCV003822050 RCV003822072 RCV003827636 RCV003827637 RCV003827638 RCV003839050 RCV003830234 RCV003842889 RCV003842890 RCV003857714 RCV003853650 RCV003858850 RCV003866034 RCV003871743 RCV000525295 RCV000471460 RCV000469460 RCV000459469 RCV000475541 RCV000465328 RCV000461296 RCV000467540 RCV000457921 RCV000473515 RCV000462143 RCV000457343 RCV000458023 RCV000477558 RCV000469666 RCV000469993 RCV000467095 RCV000473928 RCV000465113 RCV001865463 RCV000629506 RCV000551290 RCV000530061 RCV000531317 RCV000536501 RCV000546605 RCV000531657 RCV000559780 RCV000559993 RCV000530414 RCV000531107 RCV000538695 RCV000533129 RCV000560103 RCV000557562 RCV000543311 RCV000535464 RCV000556995 RCV000535963 RCV000549276 RCV000547103 RCV000555592 RCV000551412 RCV000535071 RCV000534613 RCV000557657 RCV000555244 RCV000532226 RCV000537994 RCV000559327 RCV000548482 RCV000528988 RCV003652053 RCV003652054 RCV000533237 RCV000629487 RCV001234224 RCV000627043 RCV000629363 RCV000629337 RCV000629311 RCV000629289 RCV000629415 RCV000629486 RCV000629266 RCV000629431 RCV000629313 RCV000629435 RCV000629442 RCV000629446 RCV000629327 RCV000629516 RCV000662280 RCV000662279 RCV000689854 RCV001195305 RCV000688263 RCV000686699 RCV000689365 RCV000703704 RCV000698857 RCV000695879 RCV000692447 RCV000702709 RCV000701709 RCV000697619 RCV000700397 RCV000688249 RCV000694519 RCV000686675 RCV000693465 RCV000702866 RCV000700996 RCV000686385 RCV000694717 RCV000686720 RCV000706569 RCV000693637 RCV000695016 RCV000685683 RCV000698945 RCV000692449 RCV003647803 RCV001384589 RCV000812371 RCV000796737 RCV000817510 RCV000792582 RCV000816252 RCV000802639 RCV000807959 RCV000821903 RCV000807854 RCV000807882 RCV000797061 RCV000812874 RCV000815308 RCV000812139 RCV000823387 RCV000793946 RCV000808295 RCV000793663 RCV000803189 RCV000818476 RCV000808890 RCV000815168 RCV000796716 RCV000810044 RCV000796160 RCV000798089 RCV000798369 RCV000801105 RCV000799026 RCV000815740 RCV000819877 RCV000817359 RCV000812886 RCV000826139 RCV000206560 RCV000629262 RCV001062192 RCV001044558 RCV001061194 RCV001041285 RCV001039110 RCV001047561 RCV001035192 RCV001070455 RCV001036276 RCV001067712 RCV001036543 RCV001044512 RCV001041058 RCV001071839 RCV001058415 RCV001057512 RCV001058985 RCV001061349 RCV001047562 RCV001058417 RCV001268923 RCV001219895 RCV001219185 RCV001218542 RCV001214836 RCV001224725 RCV001217306 RCV001221240 RCV001219794 RCV001224890 RCV001211559 RCV001210718 RCV001201878 RCV001210646 RCV001201915 RCV001213300 RCV001202749 RCV001208854 RCV001206749 RCV001203624 RCV001212837 RCV001208369 RCV001221467 RCV001223597 RCV001218629 RCV001225492 RCV001235426 RCV001225463 RCV001231140 RCV001238651 RCV001231642 RCV001232542 RCV001225569 RCV001238650 RCV001226504 RCV001245501 RCV001244126 RCV001247575 RCV001227038 RCV001227330 RCV001227117 RCV001245609 RCV001255302 RCV001255288 RCV001255234 RCV001255231 RCV001871649
Primary Ciliary Dyskinesia (DNAH5-related)	Likely pathogenic	rs1561476089	RCV000758196
Primary ciliary dyskinesia 3	Pathogenic; Likely pathogenic	rs2126813913, rs2126868543, rs752318477, rs1476338953, rs371030180, rs758112779, rs749980719, rs749711805, rs1195745037, rs2151981160, rs35129409, rs1436141222, rs1774569455, rs1757084798, rs2151870249 View all (328 more)	RCV001594423 RCV001594424 RCV001594418 RCV001594419 RCV001328811 RCV002493914 RCV005038195 RCV005232305 RCV005040250 RCV001780366 RCV002504640 RCV001542574 RCV001543668 RCV002501936 RCV001580693 RCV001580694 RCV001728048 RCV001780975 RCV001780977 RCV001780978 RCV005038338 RCV002503344 RCV001849888 RCV001849891 RCV005635239 RCV002507665 RCV005032014 RCV002307815 RCV002506913 RCV003313006 RCV002227290 RCV005031992 RCV002246643 RCV002484797 RCV002479577 RCV005040453 RCV002307809 RCV005031996 RCV005032018 RCV003146414 RCV005042604 RCV002307779 RCV002251124 RCV005031657 RCV005042292 RCV002306464 RCV002306494 RCV002306502 RCV002306504 RCV002306531 RCV002306541 RCV002306547 RCV002306557 RCV002306571 RCV002306582 RCV002306586 RCV002306632 RCV002306652 RCV002306657 RCV002306659 RCV002306672 RCV002306678 RCV002306681 RCV002306725 RCV002306732 RCV002306740 RCV002306756 RCV002306763 RCV002306808 RCV002306821 RCV002309579 RCV002309601 RCV002309602 RCV002309607 RCV002309636 RCV002309644 RCV002309681 RCV002309704 RCV002309705 RCV002309728 RCV002309730 RCV002309763 RCV002309777 RCV002309781 RCV002309859 RCV002309869 RCV002309884 RCV002309891 RCV002309896 RCV002309907 RCV002309919 RCV002309940 RCV002309988 RCV002310023 RCV002310024 RCV002310026 RCV002310027 RCV002307861 RCV002307864 RCV002307897 RCV002307899 RCV002307906 RCV002307922 RCV002307926 RCV002307931 RCV002307935 RCV002307940 RCV002307957 RCV002307964 RCV002307969 RCV002307982 RCV002307998 RCV002308024 RCV002308033 RCV002308034 RCV002308041 RCV002308062 RCV002308114 RCV002308158 RCV002308177 RCV002308181 RCV002308193 RCV002308196 RCV002308214 RCV002308218 RCV002308230 RCV002308277 RCV002308329 RCV002308338 RCV002308374 RCV002309024 RCV002309027 RCV002309038 RCV002309040 RCV002309063 RCV002309067 RCV002309078 RCV002309094 RCV002309111 RCV002309112 RCV002309120 RCV002309123 RCV002309127 RCV002309129 RCV002309166 RCV002309179 RCV002309197 RCV002309215 RCV002309223 RCV002309240 RCV002309261 RCV002309272 RCV002309275 RCV002309283 RCV002309306 RCV002309316 RCV002309359 RCV002309388 RCV002309399 RCV002309490 RCV002309518 RCV002309520 RCV002309526 RCV002309534 RCV002306825 RCV002306828 RCV002306833 RCV002306865 RCV002306877 RCV002306884 RCV002306885 RCV002306896 RCV002306902 RCV002306921 RCV002306931 RCV002306947 RCV002306990 RCV002307003 RCV002307042 RCV002307054 RCV002307091 RCV002307123 RCV002307128 RCV002307129 RCV002307137 RCV002307143 RCV002307146 RCV002307149 RCV002307150 RCV002307160 RCV002307184 RCV002307205 RCV002307250 RCV002307251 RCV002307266 RCV002307277 RCV002307288 RCV002307307 RCV002307346 RCV002310085 RCV002310092 RCV002310114 RCV002310119 RCV002310132 RCV002310153 RCV002310171 RCV002310206 RCV002310231 RCV002310232 RCV002310234 RCV002310241 RCV002310251 RCV002310254 RCV002310256 RCV002310350 RCV002310355 RCV002310371 RCV002310381 RCV002310386 RCV002310404 RCV002310408 RCV002310420 RCV002310447 RCV002310485 RCV002310491 RCV002310494 RCV002310497 RCV002310528 RCV002310590 RCV002308434 RCV002308448 RCV002308452 RCV004554886 RCV005032273 RCV005034646 RCV005636724 RCV005034683 RCV005044971 RCV000477807 RCV005034441 RCV005034444 RCV004760429 RCV005042422 RCV005034571 RCV000006851 RCV000006853 RCV000006854 RCV005034593 RCV002221513 RCV001781611 RCV000490388 RCV000778755 RCV000679863 RCV005044475 RCV002494641 RCV003144763 RCV003144765 RCV003144779 RCV003136695 RCV004763606 RCV003225603 RCV003228697 RCV003137869 RCV003234816 RCV003992768 RCV005036785 RCV003486312 RCV005036906 RCV001257126 RCV005356488 RCV005036934 RCV005036938 RCV005036953 RCV004763755 RCV003993509 RCV000408603 RCV000763130 RCV001198865 RCV000763131 RCV005033975 RCV005033976 RCV001782938 RCV005044668 RCV001849377 RCV001542573 RCV002283489 RCV005208142 RCV000670288 RCV000671066 RCV000778751 RCV005863191 RCV000763132 RCV000763133 RCV002466541 RCV000032853 RCV000032856 RCV002272304 RCV001784187 RCV005034204 RCV000778750 RCV002499026 RCV005044917 RCV005044918 RCV006262347 RCV000674101 RCV000671401 RCV002477537 RCV001845051 RCV005034324 RCV001078462 RCV005034320 RCV005034309 RCV005034322 RCV005046938 RCV005036206 RCV005036222 RCV001250558 RCV005047099 RCV005036136 RCV001784423 RCV002501101 RCV003448348 RCV005633750 RCV000055849 RCV000055850 RCV005036364 RCV005047286 RCV003989628 RCV005036378 RCV005036323 RCV003230628 RCV001542575 RCV001078446 RCV001078445 RCV001078447 RCV005232174 RCV005036470 RCV005040020 RCV005633961 RCV001780155 RCV005036504 RCV004796381 RCV005633965 RCV003485698 RCV001283849
Primary ciliary dyskinesia 7	Likely pathogenic; Pathogenic	rs1180317009, rs778780449	RCV005863698 RCV005863277
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic; Likely pathogenic	rs777987305, rs1056752324, rs1484394072, rs863224504, rs200901816, rs776686983, rs756032160, rs1193586811, rs397515541, rs1752923333	RCV004782838 RCV004782919 RCV005254095 RCV004782307 RCV004782385 RCV004787839 RCV005431820 RCV005253011 RCV005430957 RCV004584146

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs7719896, rs34580014	RCV005894939 RCV005894934
Cholangiocarcinoma	Benign	rs6893848, rs35104396, rs4701987	RCV005914643 RCV005923041 RCV005920266
Clear cell carcinoma of kidney	Benign; Likely benign	rs16902880, rs34580014, rs74451896	RCV005888519 RCV005894935 RCV005892498
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs114220185	RCV005893701
Familial cancer of breast	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs745582136, rs3734111, rs763904116, rs369244905	RCV005868586 RCV005888518 RCV005926423 RCV005898926
Familial prostate cancer	-	rs2151823499	RCV005930192
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	rs555796682, rs866255992, rs200974254, rs1303708125	RCV005928326 RCV005931297 RCV005897939 RCV005901223
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs12659700, rs34580014, rs536239913	RCV005911329 RCV005894933 RCV005909189
Malignant lymphoma, large B-cell, diffuse	Benign	rs1445810, rs11742383	RCV005911330 RCV005924757
Malignant tumor of esophagus	Benign; Likely benign	rs35104396, rs139160176	RCV005923040 RCV005888521
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs6888014, rs7718822, rs139160176	RCV005920206 RCV005925341 RCV005888522
Sarcoma	Benign	rs11958022	RCV005892497
See cases	Conflicting classifications of pathogenicity	rs147688221	RCV004584378
Situs inversus	Conflicting classifications of pathogenicity	rs146750552, rs1764848840	RCV005250097 RCV005250141
Squamous cell carcinoma of the head and neck	Likely benign	rs942441992	RCV005931868
Thymoma	Benign; Likely benign	rs139160176	RCV005888523
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs139160176, rs34580014	RCV005888524 RCV005894936
Uterine carcinosarcoma	Benign	rs11742383	RCV005924758
Uterine corpus endometrial carcinoma	Benign; Likely benign; -; Conflicting classifications of pathogenicity	rs74613211, rs71600031, rs2126899484, rs139160176, rs16902880, rs34580014, rs140498500, rs149956015, rs1303708125, rs151075351	RCV005918130 RCV005868282 RCV005930212 RCV005888525 RCV005888520 RCV005894938 RCV005895254 RCV005899460 RCV005901224 RCV005901225

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	35637434, 40183343
Arm Injuries	Associate	15750039
Asthenozoospermia	Associate	32664073
Asthma	Associate	21912604
Bronchiectasis	Associate	27988889, 38206729
Carcinoma Hepatocellular	Associate	38022557
Carcinoma Renal Cell	Associate	26061684
Ciliary Motility Disorders	Associate	15750039, 16055928, 16627867, 18434704, 23477994, 25066065, 25134640, 25186273, 27637300, 27779714, 28927820, 29402277, 30300419, 31118369, 31443223 View all (16 more)
Dyslexia	Associate	32357925
Esophageal Squamous Cell Carcinoma	Associate	28694483, 35899307
Genetic Diseases Inborn	Associate	32470793
Hypogonadism	Associate	33574797
Ige Responsiveness Atopic	Associate	28927820
Infertility Male	Associate	32664073, 33574797
Kartagener Syndrome	Associate	27988889, 31443223, 32847546
Leukemia Myeloid Acute	Associate	34482403
Melanoma	Associate	32241263
Moyamoya Disease	Associate	32847546
Multiple Myeloma	Associate	22573403, 33950175
Neoplasm Metastasis	Associate	31341365
Neoplasms	Associate	31341365, 38022557
Neurodevelopmental Disorders	Associate	38206729
Nevus Sebaceous of Jadassohn	Associate	36552777
Proteinuria	Associate	34616010
Pulmonary Disease Chronic Obstructive	Associate	25134640
Situs Inversus	Associate	32357925
Vitiligo	Associate	23678272

DNAH5 (dynein axonemal heavy chain 5)