G616R (p.Gly616Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G616R (p.Gly616Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Benign familial hematuria. The record also includes structural context.
G616R (p.Gly616Arg) variant details
- p.Gly616Arg
- rs2474719777
- ClinGen CA350845446
- ClinVar RCV003335819
- Likely pathogenic
- Benign familial hematuria
- Missense
- ClinVar: Likely pathogenic (Benign familial hematuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available