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rs104894085(C;T)

From SNPedia
(Redirected from I5048654(A;G))
Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH)
Is agenotype
ofrs104894085
GeneSTAR
Chromosome8
Position38,144,359
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH)
(T;T) 9.1 Lipoid congenital adrenal hyperplasia (LCAH); treatment required

Unaffected in absence of a second mutation in the STAR gene; see STAR gene for discussion and ClinVar links.