rs193302848(C;T)
From SNPedia
Carrier of a mucolipidosis III gamma mutation |
Is a | genotype |
of | rs193302848 |
Gene | GNPTG |
Chromosome | 16 |
Position | 1,361,760 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;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.