STAC3 Chromosome 12
SH3 and cysteine rich domain 3
Upload your DNA to see your personal genotypes for variants in STAC3.
What This Gene Does
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
Gene Info
Gene Group
SH3 and cysteine rich domain family
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000185482
Associated Conditions (5)
Bailey-Bloch congenital myopathy
Congenital myopathy
STAC3-related disorder
Inborn genetic diseases
Gastric cancer
Key Variants
RS751033943
Conflicting classifications of pathogenicity
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS112253539
Likely pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS777740921
Likely pathogenic
Congenital myopathy, Congenital myopathy
Health Risk
RS780801708
Likely pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS1202215410
Pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS1555194630
Pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS2037842612
Pathogenic
Health Risk
RS2548119843
Pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS2548121140
Pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS773050511
Pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS774555559
Pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
RS779483367
Pathogenic
Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751033943 | Health Risk | Conflicting classifications of pathogenicity | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS112253539 | Health Risk | Likely pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS777740921 | Health Risk | Likely pathogenic | Congenital myopathy, Congenital myopathy |
| RS780801708 | Health Risk | Likely pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS1202215410 | Health Risk | Pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS1555194630 | Health Risk | Pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS2037842612 | Health Risk | Pathogenic | — |
| RS2548119843 | Health Risk | Pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS2548121140 | Health Risk | Pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS773050511 | Health Risk | Pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS774555559 | Health Risk | Pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS779483367 | Health Risk | Pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS1269908637 | Health Risk | Pathogenic/Likely pathogenic | Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy |
| RS140291094 | Health Risk | Pathogenic/Likely pathogenic | Bailey-Bloch congenital myopathy, STAC3-related disorder, Bailey-Bloch congenital myopathy |
| RS371720347 | Health Risk | Pathogenic/Likely pathogenic | Bailey-Bloch congenital myopathy, Inborn genetic diseases, Gastric cancer |