M1I (p.Met1Ile) variant of COL7A1 (Collagen alpha-1(VII) chain)
M1I (p.Met1Ile) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2531378919
- ClinGen CA352750721
- ClinVar RCV003555086
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic