DNAH8 Chromosome 6

Dynein axonemal heavy chain 8
135 variants 135 Health Risk

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What This Gene Does
The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Dyneins, axonemal outer arm complex subunits
Locus Type
gene with protein product
Location
6p21.2
Ensembl
ENSG00000124721
Associated Conditions (4)
Primary ciliary dyskinesia
DNAH8-related disorder
Spermatogenic failure 46
Inherited obesity
Key Variants
RS1202897114
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1348383754
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS139533720
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, DNAH8-related disorder, Primary ciliary dyskinesia
Health Risk
RS140442435
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS140935840
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, DNAH8-related disorder, Primary ciliary dyskinesia
Health Risk
RS141012833
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS141147863
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS142438011
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia
Health Risk
RS142863013
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia
Health Risk
RS142907521
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS144505769
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, DNAH8-related disorder, Primary ciliary dyskinesia
Health Risk
RS145036630
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (135)
RSID Category Clinical Significance Conditions
RS2533701153 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533985932 Health Risk Likely pathogenic DNAH8-related disorder, DNAH8-related disorder
RS372080325 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376576474 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376903331 Health Risk Likely pathogenic Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia
RS748507521 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753024616 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753831132 Health Risk Likely pathogenic Primary ciliary dyskinesia, Spermatogenic failure 46, Primary ciliary dyskinesia
RS756616538 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776791493 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781634544 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1032638497 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1190884969 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1223799853 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1250753880 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1297488496 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1299196993 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1416631904 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1430752700 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1437893220 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1438128043 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1488305206 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS149070832 Health Risk Pathogenic Primary ciliary dyskinesia, Inherited obesity, Primary ciliary dyskinesia
RS150428096 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561836628 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1562782355 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1563044711 Health Risk Pathogenic Spermatogenic failure 46, Spermatogenic failure 46
RS1762922751 Health Risk Pathogenic Spermatogenic failure 46, Spermatogenic failure 46
RS1768809177 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769605097 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1771404948 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1772190647 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1775234077 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201568629 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127637299 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2150400998 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2150520528 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2150536009 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2532519909 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2532975061 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533069131 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533205148 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533205504 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533317859 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533394646 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533450264 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533556336 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533918431 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533985399 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534078747 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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