Variant (rsID / SNP)
rs121908532
rs121908532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A13. Location: chromosome 7, position 95,751,045. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC25A13Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:95751045
- Cytoband
- 7q21.3
- HGVS
- NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)
- Allele change
- Missense_R588Q
Associated conditions / phenotypes
Citrullinemia type II|Inborn genetic diseases|Citrullinemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.