D82E (p.Asp82Glu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D82E (p.Asp82Glu) 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; Dilated cardiomyopathy 1R. The record also includes published literature and structural context.
D82E (p.Asp82Glu) variant details
- p.Asp82Glu
- rs373261583
- ClinGen CA391631762
- ClinVar RCV002288370
- ClinVar RCV004808246
- Uncertain significance
- Hypertrophic cardiomyopathy; Dilated cardiomyopathy 1R
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Dilated cardiomyopathy 1R)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)