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rs80338719(A;C)

From SNPedia
(Redirected from I5007231(G;T))
Carrier of a citrullinemia/citrin deficiency allele
Is agenotype
ofrs80338719
GeneSLC25A13
Chromosome7
Position96,191,189
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 5.7 Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(A;C) 3 Carrier of a citrullinemia/citrin deficiency allele
(C;C) 0 common in clinvar

Unaffected in absence of a second SLC25A13 mutation; see ClinVar sidebar on main SNP page.