Variant (rsID / SNP)

rs121907892

rs121907892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC22A12. Location: chromosome 11, position 64,361,219. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC22A12Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:64361219
Cytoband: 11q13.1
HGVS: NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter)
Allele change: Nonsense_W258X

Associated conditions / phenotypes

Dalmatian hypouricemia

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.