Variant (rsID / SNP)

rs1630320

rs1630320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC22A12. Location: chromosome 11, position 64,367,325. Clinical significance in the table: Benign.

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Reference-table entries

SLC22A12Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:64367325
Cytoband: 11q13.1
HGVS: NM_144585.4(SLC22A12):c.1248A>G (p.Ala416=)
Allele change: Synonymous_A416A

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.