Variant (rsID / SNP)

rs1800462

rs1800462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPMT. Location: chromosome 6, position 18,143,955. Clinical significance in the table: drug response.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TPMTDrug response

Clinical significance (as recorded): drug response
Variant type: single nucleotide variant
Chromosome / position: 6:18143955
Cytoband: 6p22.3
HGVS: NM_000367.2(TPMT):c.238G>C (p.Ala80Pro)
Allele change: Missense_A80P

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.