RS768128088 COL7A1

Health Risk Chr 3:48573864
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What This Variant Does
"COL7A1 gene, c.6527dupC (p.Gly2177Trpfs)
Associated Conditions
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica inversa
autosomal recessive
Inborn genetic diseases
Epidermolysis bullosa dystrophica
Generalized dominant dystrophic epidermolysis bullosa
7 conditions
See cases
COL7A1-related disorder
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa dystrophica inversa
autosomal recessive
Inborn genetic diseases
Epidermolysis bullosa dystrophica
Generalized dominant dystrophic epidermolysis bullosa
Other Variants in COL7A1
rs121912828 rs121912829 rs746056280 rs1575470363 rs121912830 rs1575442301 rs121912831 rs121912832 rs121912833 rs1575467199
Ask Dr. Hemsworth about this variant