rs1815739
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)
- Sprinting performancePathogenic · germline
- INCREASED COLD TOLERANCEPathogenic · germline
- ACTININ, ALPHA-3 POLYMORPHISMBenign · germline
- Actn3 deficiencyAffects · germline
rs1815739 is a genetic variant located in the ACTN3 gene. dbsnp · gene
In ClinVar, rs1815739 is classified as Pathogenic for Sprinting performance (0 review stars, germline; last evaluated 2008-03-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1815739 is classified as Pathogenic for INCREASED COLD TOLERANCE (0 review stars, germline; last evaluated 2008-03-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1815739 is classified as Benign for ACTININ, ALPHA-3 POLYMORPHISM (0 review stars, germline; last evaluated 2008-03-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1815739 is classified as Affects for Actn3 deficiency (0 review stars, germline; last evaluated 2008-03-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 18daa6491fd5cd22 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.