Variant (rsID / SNP)
rs2301629
rs2301629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A13. Location: chromosome 7, position 95,800,820. Clinical significance in the table: Benign.
Reference-table entries
SLC25A13Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:95800820
- Cytoband
- 7q21.3
- HGVS
- NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)
- Allele change
- Synonymous_L398L
Associated conditions / phenotypes
Citrullinemia type II|Citrullinemia type I|Late-onset citrullinemia|Citrullinemia, type II, adult-onset|Neonatal intrahepatic cholestasis due to citrin deficiency|Citrin deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.