rs186364861

This is a missense variant in the NUDT15 gene.

Key Literature Trait Associations

Thiopurine Toxicity

NUDT15*2 is a rare loss-of-function variant that impairs the NUDT15 enzyme's ability to degrade thiopurine active metabolites. Although very rare globally, it contributes to thiopurine sensitivity risk when present. CPIC includes NUDT15*2 in its genotyping recommendations for pre-treatment assessment before azathioprine or mercaptopurine therapy.

Relling MV et al. “Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing.” Clinical Pharmacology and Therapeutics 89(3):387-391 (2011)

Allele A

OR —

p —

Candidate gene study

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ClinVar annotation

Drug Response

2 submitters1 publication

Thiopurines, poor metabolism of, 2; NUDT15-related disorder

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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