MYO5A Chromosome 15
Myosin VA
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What This Gene Does
This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1) and neuroectodermal melanolysosomal disease, or Elejalde disease. [provided by RefSeq, Sep 2023]
Gene Info
Gene Group
Myosin heavy chains, class V
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000197535
Associated Conditions (17)
Cervical cancer
Colorectal cancer
Thyroid cancer
nonmedullary
1
Melanoma
Acute myeloid leukemia
Hepatocellular carcinoma
Intellectual disability
Inborn genetic diseases
MYO5A-related disorder
Griscelli syndrome type 1
Cerebellar cortical atrophy
Dystonic disorder
Seizure
Global developmental delay
Nystagmus
Key Variants
RS143298463
Conflicting classifications of pathogenicity
Cervical cancer, Colorectal cancer, Thyroid cancer
Health Risk
RS147898420
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, MYO5A-related disorder
Health Risk
RS201410680
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS56132571
Conflicting classifications of pathogenicity
Intellectual disability, Griscelli syndrome type 1, Inborn genetic diseases
Health Risk
RS752461164
Conflicting classifications of pathogenicity
Griscelli syndrome type 1, MYO5A-related disorder, Griscelli syndrome type 1
Health Risk
RS765320441
Conflicting classifications of pathogenicity
Health Risk
RS768445814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS797045731
Conflicting classifications of pathogenicity
Health Risk
RS9282796
Conflicting classifications of pathogenicity
MYO5A-related disorder, Inborn genetic diseases, MYO5A-related disorder
Health Risk
RS1555445508
Likely pathogenic
Health Risk
RS2141084327
Likely pathogenic
Griscelli syndrome type 1, Griscelli syndrome type 1
Health Risk
RS1114167290
Pathogenic
Cerebellar cortical atrophy, Dystonic disorder, Seizure
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143298463 | Health Risk | Conflicting classifications of pathogenicity | Cervical cancer, Colorectal cancer, Thyroid cancer |
| RS147898420 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, MYO5A-related disorder |
| RS201410680 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS56132571 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Griscelli syndrome type 1, Inborn genetic diseases |
| RS752461164 | Health Risk | Conflicting classifications of pathogenicity | Griscelli syndrome type 1, MYO5A-related disorder, Griscelli syndrome type 1 |
| RS765320441 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768445814 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS797045731 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS9282796 | Health Risk | Conflicting classifications of pathogenicity | MYO5A-related disorder, Inborn genetic diseases, MYO5A-related disorder |
| RS1555445508 | Health Risk | Likely pathogenic | — |
| RS2141084327 | Health Risk | Likely pathogenic | Griscelli syndrome type 1, Griscelli syndrome type 1 |
| RS1114167290 | Health Risk | Pathogenic | Cerebellar cortical atrophy, Dystonic disorder, Seizure |
| RS2043479059 | Health Risk | Pathogenic | Griscelli syndrome type 1, Griscelli syndrome type 1 |
| RS2141121140 | Health Risk | Pathogenic | Griscelli syndrome type 1, Griscelli syndrome type 1 |
| RS764371254 | Health Risk | Pathogenic | Griscelli syndrome type 1, Griscelli syndrome type 1 |
| RS769021352 | Health Risk | Pathogenic | Griscelli syndrome type 1, Griscelli syndrome type 1 |