rs398123258(-;C)
From SNPedia
Carrier of a mucopolysaccharidosis type 1 mutation |
Is a | genotype |
of | rs398123258 |
Gene | IDUA |
Chromosome | 4 |
Position | 1,004,083 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a mucopolysaccharidosis type 1 mutation |
(C;C) | 0 | common in clinvar |
Unaffected in absence of a second IDUA gene mutation