Gene entry
SLC25A13
solute carrier family 25 member 13
- Chromosome
- 7
- Cytoband
- 7q21.3
- Variants (rsID)
- 34
SLC25A13 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q21.3). Its official name is “solute carrier family 25 member 13”. The reference table lists 34 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs2301629Benignsingle nucleotide variantCitrullinemia type II|Citrullinemia type I|Late-onset citrullinemia|Citrullinemia, type II, adult-onset|Neonatal intrahepatic cholestasis due to citrin deficiency|Citrin deficiency
- rs121908532Conflicting interpretationssingle nucleotide variantCitrullinemia type II|Inborn genetic diseases|Citrullinemia
- rs80338722Pathogenicsingle nucleotide variantCitrullinemia type II|Neonatal intrahepatic cholestasis due to citrin deficiency|Citrin deficiency|Late-onset citrullinemia|Citrullinemia, type II, adult-onset
- rs80338729Pathogenicsingle nucleotide variantNeonatal intrahepatic cholestasis due to citrin deficiency
- rs75622628Uncertain significancesingle nucleotide variantCitrin deficiency|Citrullinemia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
