G315S (p.Gly315Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G315S (p.Gly315Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro. The record also includes structural context.
G315S (p.Gly315Ser) variant details
- p.Gly315Ser
- Ensembl rs2070174389
- Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available