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rs80338721(C;T)

From SNPedia
(Redirected from I6056228(A;G))
Carrier of a citrullinemia/citrin deficiency allele
Is agenotype
ofrs80338721
GeneSLC25A13
Chromosome7
Position96,184,376
mentionedby
Magnitude3
ReputeBad
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

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