C1643Y (p.Cys1643Tyr) variant of CHD7 (Q9P2D1)
C1643Y (p.Cys1643Tyr) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CHARGE syndrome. The record also includes published literature and structural context.
C1643Y (p.Cys1643Tyr) variant details
- p.Cys1643Tyr
- rs2487970311
- ClinGen CA371319889
- ClinVar RCV003333667
- Likely pathogenic
- CHARGE syndrome
- Missense
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)