DNAH14 Chromosome 1
Dynein axonemal heavy chain 14
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What This Gene Does
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Dyneins, axonemal inner arm I1/f complex subunits
Locus Type
gene with protein product
Location
1q42.12
Ensembl
ENSG00000185842
Associated Conditions (1)
Neurodevelopmental disorder
Key Variants
RS183261121
Conflicting classifications of pathogenicity
Health Risk
RS192345324
Conflicting classifications of pathogenicity
Health Risk
RS200310916
Conflicting classifications of pathogenicity
Health Risk
RS545174074
Conflicting classifications of pathogenicity
Health Risk
RS745928222
Conflicting classifications of pathogenicity
Health Risk
RS760286141
Conflicting classifications of pathogenicity
Health Risk
RS768225657
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1394394477
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS183261121 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS192345324 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200310916 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS545174074 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745928222 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760286141 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768225657 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1394394477 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |