C12Y (p.Cys12Tyr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
C12Y (p.Cys12Tyr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The record also includes structural context.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- rs2504185646
- ClinGen CA391633395
- ClinVar RCV004015992
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available