rs28940585(T;T)
From SNPedia
Argininosuccinate lyase deficiency |
Is a | genotype |
of | rs28940585 |
Gene | ASL |
Chromosome | 7 |
Position | 66,082,443 |
Merged from | Rs6519457 |
mentioned | by |
Magnitude | 8 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Likely miscall in DNA chip data (e.g. Ancestry or 23andMe); otherwise, unaffected carrier of one bad argininosuccinate lyase allele |
(T;T) | 8 | Argininosuccinate lyase deficiency |
see discussion at Argininosuccinate lyase deficiency