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rs113994167(C;T)

From SNPedia
Carrier of a VLCAD deficiency mutation
Is agenotype
ofrs113994167
GeneACADVL
Chromosome17
Position7,222,272
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 6.1 VLCAD deficiency (predicted)
(C;T) 3 Carrier of a VLCAD deficiency mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second ACADVL gene mutation