S62G (p.Ser62Gly) variant of ACTC1 (Actin, alpha cardiac muscle 1)
S62G (p.Ser62Gly) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1. The record also includes structural context.
S62G (p.Ser62Gly) variant details
- p.Ser62Gly
- Ensembl rs1891751811
- Uncertain significance
- Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1
- Missense
- ClinVar: Uncertain significance (Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated)
- UniProt: Uncertain significance
- Structural context available