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rs80338720(-;GTAT)

From SNPedia
Carrier of a citrullinemia/citrin deficiency allele
Is agenotype
ofrs80338720
GeneSLC25A13
Chromosome7
Position96,189,373
Merged fromRs569808959
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 5.7 Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(-;GTAT) 3 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.