K317N (p.Lys317Asn) variant of ACTC1 (Actin, alpha cardiac muscle 1)
K317N (p.Lys317Asn) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect. The record also includes published literature and structural context.
K317N (p.Lys317Asn) variant details
- p.Lys317Asn
- rs2504177349
- ClinGen CA391629353
- ClinVar RCV003807506
- Likely pathogenic
- Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect
- Missense
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)