R127G (p.Arg127Gly) variant of ASS1 (Argininosuccinate synthase)
R127G (p.Arg127Gly) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia; Citrullinemia type I. The record also includes structural context.
R127G (p.Arg127Gly) variant details
- p.Arg127Gly
- rs771794639
- ClinGen CA375225781
- ClinVar RCV002235282
- ExAC rs771794639
- Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- ClinVar: Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Likely pathogenic (in CTLN1)
- UniProt: Likely pathogenic (in CTLN1)
- Structural context available