rs80338716(C;C)
From SNPedia
common in clinvar |
Is a | genotype |
of | rs80338716 |
Gene | SLC25A13 |
Chromosome | 7 |
Position | 96,193,102 |
mentioned | by |
Magnitude | 0 |
Repute | Good |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a citrullinemia/citrin deficiency allele |
(T;T) | 5.7 | Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset |