M1R (p.Met1Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
M1R (p.Met1Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome, classic type, 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs2491093547
- ClinGen CA375443756
- ClinVar RCV002829454
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)