D16G (p.Asp16Gly) variant of ASS1 (Argininosuccinate synthase)
D16G (p.Asp16Gly) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Citrullinemia type I. The record also includes structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- Ensembl rs1588471179
- Uncertain significance
- Citrullinemia type I
- Missense
- ClinVar: Uncertain significance (Citrullinemia type I)
- UniProt: Uncertain significance
- Structural context available