C1251R (p.Cys1251Arg) variant of CHD7 (Q9P2D1)
C1251R (p.Cys1251Arg) 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 variant effect predictions, published literature, and structural context.
C1251R (p.Cys1251Arg) variant details
- p.Cys1251Arg
- UniProt VAR 068394
- Likely pathogenic
- CHARGE syndrome
- Missense
- MetaLR 0.62
- MetaSVM 0.38
- SIFT 0.00
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Variant of uncertain significance (in CHARGES)
- UniProt: Uncertain significance (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)