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rs78478128(C;G)

From SNPedia
(Redirected from I5008455(C;G))
Carrier of G6PD deficiency mutation; variable expressivity
Is agenotype
ofrs78478128
GeneG6PD
ChromosomeX
Position154,536,168
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

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