10/30/2026, 1:54:18 PM · PharmCAT 3.4.0 · Research record, not medical advice
- read 2 gene calls10.0s
- PharmCATstandardised 2 genes13.3s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Sample Molecular Diagnostics, Bengaluru · NOT A REAL LAB · 27 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| NUDT15 | “NUDT15 rs116855232 C/C Wild type” | *1/*1 | Normal Metabolizer |
| TPMT | “TPMT rs1142345 A/A Wild type; TPMT rs1800460 C/C Wild type” | *1/*1 | Normal Metabolizer |
Method as printed: Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded. Genotypes are reported per rsID on the forward strand. Star-allele assignment is left to the treating clinician.
Coveragedeterministic rules · which India-relevant variants this panel named
Main NUDT15 risk allele, ~7-11% in Indians (PMID 29470173)
Most common TPMT variant in South Asians
A variant the panel did not name is left out of cohort statistics for that variant, rather than counted as absent. Reader notes: Only the listed variants are assayed; variants outside this panel cannot be excluded. Star-allele assignment is left to the treating clinician. Synthetic document generated for software benchmarking. Not a real patient or laboratory.
Exportde-identified · the same record in three formats
Curator review
A curator checks each call against the source document before the record counts in a cohort, and Muse Spark web search finds published Indian frequency data for each variant. Both are written to the audit log. Reviewing is the one action that needs a curator code, because it is a claim that a person checked the page.
Sign in as a curator