G408D (p.Gly408Asp) variant of MYH6 (Myosin-6)
G408D (p.Gly408Asp) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypoplastic left heart syndrome. The record also includes structural context.
G408D (p.Gly408Asp) variant details
- p.Gly408Asp
- rs2502193523
- ClinGen CA389024224
- ClinVar RCV003592049
- Likely pathogenic
- Hypoplastic left heart syndrome
- Missense
- ClinVar: Likely pathogenic (Hypoplastic left heart syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available