rs193302854(G;T)
From SNPedia
| Carrier of a mucolipidosis III gamma mutation |
| Is a | genotype |
| of | rs193302854 |
| Gene | GNPTG |
| Chromosome | 16 |
| Position | 1,362,610 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | Likely miscall if from Ancestry data; otherwise, mucolipidosis mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a mucolipidosis III gamma mutation |
| (T;T) | 6.1 | Mucolipidosis III gamma |
Unaffected in absence of a second mutation in the GNPTG gene; see ClinVar sidebar for links.
