rs113994167(C;T)
From SNPedia
Carrier of a VLCAD deficiency mutation |
Is a | genotype |
of | rs113994167 |
Gene | ACADVL |
Chromosome | 17 |
Position | 7,222,272 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
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