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rs72554665(G;T)

From SNPedia
(Redirected from I5012739(A;C))
Carrier of G6PD deficiency mutation; variable expressivity
Is agenotype
ofrs72554665
GeneG6PD
ChromosomeX
Position154,532,269
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 5 G6PD deficiency
(C;G) 3 Carrier of G6PD deficiency mutation; variable expressivity
(G;G) 0 common in clinvar
(G;T) 3 Carrier of G6PD deficiency mutation; variable expressivity
(T;T) 5 G6PD deficiency

Carrier but likely to be asymptomatic. However, effects vary in females due to random X chromosome inactivation.