L1126F (p.Leu1126Phe) variant of CHD7 (Q9P2D1)
L1126F (p.Leu1126Phe) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CHARGE syndrome. The record also includes published literature and structural context.
L1126F (p.Leu1126Phe) variant details
- p.Leu1126Phe
- rs2487819601
- ClinGen CA371312827
- ClinVar RCV002851059
- Pathogenic
- CHARGE syndrome
- Missense
- ClinVar: Pathogenic (CHARGE syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)