rs80338720(-;GTAT)
From SNPedia
Carrier of a citrullinemia/citrin deficiency allele |
Is a | genotype |
of | rs80338720 |
Gene | SLC25A13 |
Chromosome | 7 |
Position | 96,189,373 |
Merged from | Rs569808959 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5.7 | Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset |
(-;GTAT) | 3 | Carrier of a citrullinemia/citrin deficiency allele |
(-;TATG) | Carrier of a citrullinemia/citrin deficiency allele | |
(GTAT;GTAT) | 0 | common in complete genomics |
(TATG;TATG) | 0 | common in clinvar |
Unaffected in absence of a second SLC25A13 mutation; see ClinVar sidebar on main SNP page.