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rs80338725(-;GAGATTACAGGTGGCTGCCCGGG)

From SNPedia
Carrier of a citrullinemia/citrin deficiency allele
Is agenotype
ofrs80338725
GeneSLC25A13
Chromosome7
Position96,121,928
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GAGATTACAGGTGGCTGCCCGGG) 3 Carrier of a citrullinemia/citrin deficiency allele
(GAGATTACAGGTGGCTGCCCGGG;GAGATTACAGGTGGCTGCCCGGG) 5.7 Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(GCT;GCT) 0 common in clinvar

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