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rs137852870(A;T)

From SNPedia
(Redirected from I5004463(A;T))
Carrier for a maple syrup urine disease mutation
Is agenotype
ofrs137852870
GeneBCKDHA
Chromosome19
Position41,424,582
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8 Maple Syrup Urine Disease likely
(A;T) 3 Carrier for a maple syrup urine disease mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second mutation in the BCKDHA gene; see discussion at rs137852870.