rs397517925(A;T)
From SNPedia
Carrier of an Usher syndrome mutation |
Is a | genotype |
of | rs397517925 |
Gene | USH1G |
Chromosome | 17 |
Position | 74,919,463 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 3 | Carrier of an Usher syndrome mutation |
(T;T) | 5 | Usher syndrome, type 1G |
Unaffected in absence of another pathogenic mutation in the USH1G gene; see rs397517925