10/30/2026, 1:56:31 PM · PharmCAT 3.4.0 · Research record, not medical advice
- read 2 gene calls9.6s
- PharmCATstandardised 2 genes8.9s
- Rules0 coverage gaps
Calls each call quoted from the source, then standardised by PharmCAT
Example Pharmacogenomics Centre, Mumbai · 28 Oct 2026 · open original photo
| Gene | As printed | Standardised | Phenotype term |
|---|---|---|---|
| DPYD | “DPYD Phenotype: Normal metabolizer c.1236G>A (HapB3) Not detected c.85T>C (*9A) Not detected c.1905+1G>A (*2A) Not detected c.1679T>G (*13) Not detected c.2846A>T Not detected” | Reference/Reference | Normal Metabolizer · activity 2.0 |
| UGT1A1 | “UGT1A1 Phenotype: Poor metabolizer *28 Detected (homozygous) *6 Not detected” | *28/*28 | Poor Metabolizer |
Method as printed: Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded.
Coveragedeterministic rules · which India-relevant variants this panel named
Most common Indian decreased-function DPYD variant (~3.3%, PMID 40810747)
~25% in Indians; toxicity signal in South Indian cohorts (PMC11300675)
European tier-1 variant; rare in Indians (PMID 40810747)
Tier-1 no-function variant (PMID 39032821)
Tier-1 variant; near-absent in Indians (PMID 40810747)
TA-repeat allele, common in South Asians
East Asian allele; reported at low frequency in India
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. 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