K63N (p.Lys63Asn) variant of ACTC1 (Actin, alpha cardiac muscle 1)
K63N (p.Lys63Asn) 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. The record also includes published literature and structural context.
K63N (p.Lys63Asn) variant details
- p.Lys63Asn
- rs2140432188
- NCI-TCGA Cosmic COSV5176
- ClinGen CA391632024
- ClinVar RCV003328084
- Uncertain significance
- Dilated cardiomyopathy 1R
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1R)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)