G35R (p.Gly35Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G35R (p.Gly35Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of X-linked Alport syndrome. The record also includes structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- cosmic curated COSV60371
- Uncertain significance
- X-linked Alport syndrome
- Missense
- ClinVar: Uncertain significance (X-linked Alport syndrome)
- UniProt: Uncertain significance
- Structural context available