L18M (p.Leu18Met) variant of ACTC1 (Actin, alpha cardiac muscle 1)
L18M (p.Leu18Met) 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 Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1. The record also includes published literature and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- rs2504185604
- ClinGen CA391633318
- ClinVar RCV003017463
- Uncertain significance
- Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1
- Missense
- ClinVar: Uncertain significance (Atrial septal defect 5; Hypertrophic cardiomyopathy 11; Dilated)
- 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)