MYO9A Chromosome 15
Myosin IXA
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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 non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains 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 Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Myosin heavy chains, class IX
Locus Type
gene with protein product
Location
15q23
Ensembl
ENSG00000066933
Associated Conditions (7)
MYO9A-related disorder
Inborn genetic diseases
Myasthenic syndrome
congenital
24
presynaptic
Flexion contracture
Key Variants
RS116934613
Conflicting classifications of pathogenicity
MYO9A-related disorder, Inborn genetic diseases, MYO9A-related disorder
Health Risk
RS141509078
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147088860
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150726107
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 24
Health Risk
RS1567176190
Conflicting classifications of pathogenicity
Myasthenic syndrome, congenital, 24
Health Risk
RS200246273
Conflicting classifications of pathogenicity
Health Risk
RS74022458
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS75986913
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS77106788
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2143524373
Likely pathogenic
Myasthenic syndrome, congenital, 24
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116934613 | Health Risk | Conflicting classifications of pathogenicity | MYO9A-related disorder, Inborn genetic diseases, MYO9A-related disorder |
| RS141509078 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147088860 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150726107 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 24 |
| RS1567176190 | Health Risk | Conflicting classifications of pathogenicity | Myasthenic syndrome, congenital, 24 |
| RS200246273 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74022458 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS75986913 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS77106788 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2143524373 | Health Risk | Likely pathogenic | Myasthenic syndrome, congenital, 24 |