Carrier for a Tay-Sachs mutation |
Is a | genotype |
of | rs28942071 |
Gene | HEXA |
Chromosome | 15 |
Position | 72,345,462 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier for a Tay-Sachs mutation |
(T;T) | 8.8 | Tay-Sachs disease (predicted) |
Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease