The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

COL7A1

—Collagen Type VII Alpha 1 Chain

Chromosome: 3

Location: 3:48564073-48595596

OMIM: 120120

Ensembl: ENSG00000114270

Official·OMIM:120120 Official·ENSG00000114270

Encodes type VII collagen alpha-1 chain. Mutations cause dystrophic epidermolysis bullosa.

Treatment Roadmap — COL7A1

Preclinical

Phase 1

1 trial

Phase 2

2 trial

Phase 3

4 trial

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Dystrophic Epidermolysis Bullosa

Autosomal RecessivePrevalence: 1/50000dermatologic

Official·OMIM:131750 Official·ORPHA303

Summary

Clinical Trial

Approved Therapy

Registered Variant