D1812G (p.Asp1812Gly) variant of CHD7 (Q9P2D1)
D1812G (p.Asp1812Gly) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CHD7-related CHARGE syndrome. The record also includes published literature and structural context.
D1812G (p.Asp1812Gly) variant details
- p.Asp1812Gly
- UniProt VAR 068404
- Pathogenic
- CHD7-related CHARGE syndrome
- Missense
- ClinVar: Pathogenic (CHD7-related CHARGE syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: Mutation update on the CHD7 gene involved in CHARGE syndrome. (PMID 22461308)
- Cited in: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PMID 15300250)