Variant (rsID / SNP)

rs1142345

rs1142345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPMT. Location: chromosome 6, position 18,130,918. Clinical significance in the table: Likely benign; other.

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Reference-table entries

TPMTLikely benign

Clinical significance (as recorded): Likely benign; other
Variant type: single nucleotide variant
Chromosome / position: 6:18130918
Cytoband: 6p22.3
HGVS: NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys)
Allele change: Missense_Y240C

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.