Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
Is a | genotype |
of | rs121912849 |
Gene | COL7A1 |
Chromosome | 3 |
Position | 48,575,236 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
Unaffected in absence of a second COL7A1 mutation; see ClinVar sidebar on main SNP page.