L152V (p.Leu152Val) variant of ABCC9 (O60706)
L152V (p.Leu152Val) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O. The record also includes published literature and structural context.
L152V (p.Leu152Val) variant details
- p.Leu152Val
- rs1415365495
- ClinGen CA384125744
- ClinVar RCV002467473
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)