rs80338727
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 796,121,695 (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
- C;TBadCarrier of a citrullinemia/citrin deficiency allele
- C;CGoodcommon in clinvar
- A;CBadCarrier of a citrullinemia/citrin deficiency allele
- A;ABadCitrullinemia type II/citrin deficiency; neonatal and/or adult-onset
SNPedia records rs80338727 on the minus strand: (A;A), (A;G), (G;G), (G;T), (T;T). 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
- rs80338719T;TCitrullinemia 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
Notes
From SNPedia
Show notes, about 120 words
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.
T;T
Pathogenic in ClinVar;see sidebar on main SNP page.
C;T
Unaffected in absence of a second SLC25A13 mutation; see ClinVar sidebar on main SNP page.
A;C
Unaffected in absence of a second SLC25A13 mutation; see ClinVar sidebar on main SNP page.
A;A
Pathogenic in ClinVar;see sidebar on main SNP page.
Source and license
Adapted from rs80338727 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.