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COL7A1 - collagen type VII alpha 1 chain
- Synonym(s) : collagen VII, alpha-1 polypeptide, LC collagen
- Previous symbols and names : EBD1, EBDCT, EBR1, collagen, type VII, alpha 1, epidermolysis bullosa, dystrophic, dominant and recessive
- Type : gene with protein product
- Chromosomal location : 3p21.31
- OMIM: 120120
- HGNC: 2214
- UniProtKB: Q02388
- Genatlas: COL7A1
- GenCC: COL7A1
- Ensembl: ENSG00000114270
- IUPHAR-DB: -
- Reactome: Q02388
- LOVD: COL7A1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Autosomal dominant generalized dystrophic epidermolysis bullosa
ORPHA:231568 
- Disease-causing germline mutation(s) (loss of function) in Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
ORPHA:89842 - Disease-causing germline mutation(s) (loss of function) in Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
ORPHA:79408 - Disease-causing germline mutation(s) (loss of function) in Dystrophic epidermolysis bullosa pruriginosa
ORPHA:89843 - Disease-causing germline mutation(s) (loss of function) in Localized dystrophic epidermolysis bullosa, acral form
ORPHA:158673 - Disease-causing germline mutation(s) (loss of function) in Localized dystrophic epidermolysis bullosa, nails only
ORPHA:158676 - Disease-causing germline mutation(s) (loss of function) in Localized dystrophic epidermolysis bullosa, pretibial form
ORPHA:79410 - Disease-causing germline mutation(s) (loss of function) in Recessive dystrophic epidermolysis bullosa inversa
ORPHA:79409 - Disease-causing germline mutation(s) (loss of function) in Self-improving dystrophic epidermolysis bullosa
ORPHA:79411
: AssessedAdditional information
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