D53N (p.Asp53Asn) variant of ACTC1 (Actin, alpha cardiac muscle 1)
D53N (p.Asp53Asn) 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 Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic cardiomyopathy 1. The record also includes published literature and structural context.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- rs2504183375
- ClinGen CA391632181
- ClinVar RCV003070263
- Uncertain significance
- Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic cardiomyopathy 1
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1R; Atrial septal defect 5; Hypertrophic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)