Variant (rsID / SNP)
rs121908480
rs121908480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A9. Location: chromosome 19, position 33,355,167. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SLC7A9Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:33355167
- Cytoband
- 19q13.11
- HGVS
- NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
- Allele change
- Missense_G105R
Associated conditions / phenotypes
Cystinuria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.