Variant (rsID / SNP)

rs121908486

rs121908486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC7A9. Location: chromosome 19, position 33,350,838. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC7A9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:33350838
Cytoband: 19q13.11
HGVS: NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu)
Allele change: Missense_P261L

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.