Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs121908322

SLC2A9

rs121908322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A9. Location: chromosome 4, position 9,982,305. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC2A9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:9982305
Cytoband
4p16.1
HGVS
NM_020041.3(SLC2A9):c.592C>T (p.Arg198Cys)
Allele change
Missense_R198C

Associated conditions / phenotypes

Hypouricemia, renal, 2

Public references

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