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rs113994096(C;T)

From SNPedia
(Redirected from I5006729(A;G))
Carrier of a possible mutation for a mitochondrial syndrome, but significance unclear
Is agenotype
ofrs113994096
GenePOLG
Chromosome15
Position89,325,639
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a possible mutation for a mitochondrial syndrome, but significance unclear

Pathogenicity of the minor allele is in question; and, as a recessively inherited condition, a carrier would be unaffected in the absence of another POLG gene mutation