rs1142345
NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys)
- Thiopurine S-methyltransferase deficiencyDrug response · germline
- not providedLikely benign · ★★ · germline
gnomAD allele frequency 4.08e-2
rs1142345 is a genetic variant located in the TPMT gene. dbsnp · gene
In gnomAD, rs1142345 has an overall allele frequency of 4.1%. gnomad · frequency
In ClinVar, rs1142345 is classified as Drug response for Thiopurine S-methyltransferase deficiency (0 review stars, germline; last evaluated 2006-02-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1142345 is classified as Likely benign for not provided (2 review stars, germline; last evaluated 2024-07-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 7140d61b1ecf7dd1 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.