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rs121912847(C;T)

From SNPedia
(Redirected from I5004267(A;G))
Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
Is agenotype
ofrs121912847
GeneCOL7A1
Chromosome3
Position48,581,271
mentionedby
Magnitude3
ReputeBad
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.