Variant (rsID / SNP)

rs74423290

rs74423290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPMT. Location: chromosome 6, position 18,134,115. Clinical significance in the table: drug response.

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Reference-table entries

TPMTDrug response

Clinical significance (as recorded): drug response
Variant type: single nucleotide variant
Chromosome / position: 6:18134115
Cytoband: 6p22.3
HGVS: NM_000367.5(TPMT):c.500C>G (p.Ala167Gly)
Allele change: Missense_A167G

Associated conditions / phenotypes

Thiopurine methyltransferase deficiency

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.