Variant (rsID / SNP)

rs121908484

rs121908484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A9. Location: chromosome 19, position 33,334,838. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC7A9Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:33334838
Cytoband: 19q13.11
HGVS: NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)
Allele change: Missense_R333W

Associated conditions / phenotypes

Cystinuria

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.