G464E (p.Gly464Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G464E (p.Gly464Glu) 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; Autosomal recessive Alport syndrome; Benign. The record also includes published literature and structural context.
G464E (p.Gly464Glu) variant details
- p.Gly464Glu
- rs2125981235
- ClinGen CA350870191
- ClinVar RCV001964405
- ClinVar RCV002492185
- Likely pathogenic
- Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Autosomal recessive Alport s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)