MYO1A Chromosome 12
Myosin IA
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What This Gene Does
This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Myosin heavy chains, class I
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000166866
Associated Conditions (5)
Autosomal dominant nonsyndromic hearing loss 48
MYO1A-related disorder
Congenital diarrhea
Diarrhea 15
congenital
Key Variants
RS121909305
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 48, MYO1A-related disorder, Autosomal dominant nonsyndromic hearing loss 48
Health Risk
RS144009842
Conflicting classifications of pathogenicity
Health Risk
RS144384395
Conflicting classifications of pathogenicity
Health Risk
RS147147276
Conflicting classifications of pathogenicity
Health Risk
RS148582008
Conflicting classifications of pathogenicity
Health Risk
RS151269703
Conflicting classifications of pathogenicity
Congenital diarrhea, Diarrhea 15, congenital
Health Risk
RS189900453
Conflicting classifications of pathogenicity
MYO1A-related disorder, MYO1A-related disorder
Health Risk
RS369452147
Conflicting classifications of pathogenicity
Health Risk
RS370617353
Conflicting classifications of pathogenicity
Health Risk
RS370708976
Conflicting classifications of pathogenicity
Health Risk
RS372760228
Conflicting classifications of pathogenicity
Health Risk
RS55985817
Conflicting classifications of pathogenicity
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121909305 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 48, MYO1A-related disorder, Autosomal dominant nonsyndromic hearing loss 48 |
| RS144009842 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144384395 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147147276 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148582008 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151269703 | Health Risk | Conflicting classifications of pathogenicity | Congenital diarrhea, Diarrhea 15, congenital |
| RS189900453 | Health Risk | Conflicting classifications of pathogenicity | MYO1A-related disorder, MYO1A-related disorder |
| RS369452147 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370617353 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370708976 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372760228 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS55985817 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571906190 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765830662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781131982 | Health Risk | Conflicting classifications of pathogenicity | — |