G71W (p.Gly71Trp) variant of JPH2 (Junctophilin-2)
G71W (p.Gly71Trp) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The record also includes structural context.
G71W (p.Gly71Trp) variant details
- p.Gly71Trp
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60697
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Structural context available