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rs137852340(A;G)

From SNPedia
(Redirected from I5008452(C;T))
Carrier of G6PD deficiency mutation; variable expressivity
Is agenotype
ofrs137852340
GeneG6PD, IKBKG
ChromosomeX
Position154,546,061
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of G6PD deficiency mutation; variable expressivity
(G;G) 5 G6PD deficiency

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