rs113994094(C;T)
From SNPedia
Carrier of a possible mutation for a mitochondrial syndrome, but significance unclear |
Is a | genotype |
of | rs113994094 |
Gene | POLG |
Chromosome | 15 |
Position | 89,330,184 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
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