rs80338719
A SNP in the SLC25A13 gene on chromosome 7. Its most notable genotype is T;T: Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
- Gene
- SLC25A13
- Location
- Chr 796,191,189 (GRCh38)
- Highest magnitude
- 5.7Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadCitrullinemia type II/citrin deficiency; neonatal and/or adult-onset
- G;TBadCarrier of a citrullinemia/citrin deficiency allele
- G;GGoodcommon in clinvar
SNPedia records rs80338719 on the minus strand: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other SLC25A13 SNPs
- rs80338715T;TCitrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important
- rs80338716A;ACitrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important
- rs80338717T;TCitrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important
- rs80338718G;GCitrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important
- rs80338720-;-Citrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important
- rs80338721A;ACitrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important
- rs80338722T;TCitrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important
- rs80338723T;TCitrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important
Notes
From SNPedia
Notes
SLC25A13 gene, c.674C>A (p.Ser225Ter) 23andMe name: i5007231
T;T
Pathogenic in ClinVar;see sidebar on main SNP page.
G;T
Unaffected in absence of a second SLC25A13 mutation; see ClinVar sidebar on main SNP page.
Source and license
Adapted from rs80338719 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.