G54R (p.Gly54Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G54R (p.Gly54Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; X-linked Alport syndrome. The record also includes published literature and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- rs2524162428
- ClinGen CA413914082
- ClinVar RCV003046789
- ClinVar RCV003236595
- Pathogenic/Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)