SLC25A13 Chromosome 7

Solute carrier family 25 member 13
208 variants 208 Health Risk

Upload your DNA to see your personal genotypes for variants in SLC25A13.

What This Gene Does
This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Gene Info
Gene Group
"EF-hand domain containing|MicroRNA protein coding host genes|Solute carrier family 25"
Locus Type
gene with protein product
Location
7q21.3
Ensembl
ENSG00000004864
Associated Conditions (17)
Citrin deficiency
Citrullinemia type II
Inborn genetic diseases
Citrullinemia
Neonatal intrahepatic cholestasis due to citrin deficiency
type II
adult-onset
SLC25A13-related disorder
Adult-onset citrullinemia type I
Short-rib thoracic dysplasia 6 with or without polydactyly
Citrullinemia type I
Melanoma
CITRIN DEFICIENCY
NEONATAL ONSET
Malignant lymphoma
large B-cell
diffuse
Key Variants
RS1053861538
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS1173610818
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS1207471194
Conflicting classifications of pathogenicity
Citrullinemia type II, Citrin deficiency, Citrullinemia type II
Health Risk
RS121908532
Conflicting classifications of pathogenicity
Citrullinemia type II, Inborn genetic diseases, Citrullinemia
Health Risk
RS1363947528
Conflicting classifications of pathogenicity
Citrullinemia, type II, adult-onset
Health Risk
RS138094550
Conflicting classifications of pathogenicity
Citrin deficiency, SLC25A13-related disorder, Citrin deficiency
Health Risk
RS139149160
Conflicting classifications of pathogenicity
Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II, Citrin deficiency
Health Risk
RS1410802687
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS141152495
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS143181462
Conflicting classifications of pathogenicity
Citrullinemia, type II, adult-onset
Health Risk
RS143706021
Conflicting classifications of pathogenicity
Citrin deficiency, Citrin deficiency
Health Risk
RS143877538
Conflicting classifications of pathogenicity
Citrullinemia type II, Citrin deficiency, Citrullinemia
Health Risk
All Variants (208)
RSID Category Clinical Significance Conditions
RS1053861538 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1173610818 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1207471194 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia type II
RS121908532 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Inborn genetic diseases, Citrullinemia
RS1363947528 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II, adult-onset
RS138094550 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder, Citrin deficiency
RS139149160 Health Risk Conflicting classifications of pathogenicity Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II, Citrin deficiency
RS1410802687 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS141152495 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS143181462 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II, adult-onset
RS143706021 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS143877538 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia
RS144494809 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Adult-onset citrullinemia type I, Citrin deficiency
RS146111714 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, Citrin deficiency
RS148962110 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency
RS150021522 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, Citrullinemia
RS150082469 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, Adult-onset citrullinemia type I
RS1562782419 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1562823061 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II, adult-onset
RS1562831788 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1794836188 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia type II
RS1798490375 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia, Neonatal intrahepatic cholestasis due to citrin deficiency
RS180844972 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, SLC25A13-related disorder
RS188486690 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, SLC25A13-related disorder
RS199735534 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder, Citrin deficiency
RS200237622 Health Risk Conflicting classifications of pathogenicity Neonatal intrahepatic cholestasis due to citrin deficiency, SLC25A13-related disorder, Citrin deficiency
RS200838637 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, SLC25A13-related disorder
RS201352939 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia type II
RS201395793 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder, Citrin deficiency
RS201598915 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia type II
RS35996658 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, Inborn genetic diseases
RS369564645 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia type II
RS376416252 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency
RS531991442 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, SLC25A13-related disorder
RS534452813 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrullinemia, type II
RS541276426 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II, adult-onset
RS548769905 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia, Citrullinemia type II
RS747257110 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder, Citrin deficiency
RS750610043 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS757177279 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia type II
RS757317844 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, Inborn genetic diseases
RS764693182 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II, adult-onset
RS765192701 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder, Citrin deficiency
RS765358773 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia, SLC25A13-related disorder
RS774203119 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Inborn genetic diseases, Citrin deficiency
RS774562949 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II, SLC25A13-related disorder
RS777148254 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia type II
RS886062529 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency, Citrullinemia type II
RS1060499612 Health Risk Likely pathogenic Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia
RS1311945646 Health Risk Likely pathogenic Citrullinemia, type II, adult-onset
1 2 3 4 5 Next »
Sign Up to Analyze Your DNA Log In