{
  "record": {
    "id": "08d709988ab8",
    "label": "IndiPGx-Pop p113",
    "cohort": "india-sim",
    "source": "report",
    "createdAt": "2026-10-30T13:57:53.245Z"
  },
  "calls": [
    {
      "gene": "DPYD",
      "diplotype": "Reference/Reference",
      "phenotype": "Normal Metabolizer",
      "activityScore": "2.0",
      "source": "OUTSIDE"
    },
    {
      "gene": "UGT1A1",
      "diplotype": "*28/*28",
      "phenotype": "Poor Metabolizer",
      "source": "OUTSIDE"
    }
  ],
  "extract": {
    "genes": [
      {
        "activityScore": "",
        "diplotype": "Reference/Reference",
        "gene": "DPYD",
        "phenotype": "",
        "verbatim": "DPYD rs3918290 C/C Wild type; DPYD rs55886062 A/A Wild type; DPYD rs67376798 T/T Wild type"
      },
      {
        "activityScore": "",
        "diplotype": "*28/*28",
        "gene": "UGT1A1",
        "phenotype": "",
        "verbatim": "UGT1A1 rs3064744 (TA)7/(TA)7 Homozygous"
      }
    ],
    "labName": "Sample Molecular Diagnostics, Bengaluru · NOT A REAL LAB",
    "methodNotes": "Genotypes are reported per rsID on the forward strand. Star-allele assignment is left to the treating clinician. Method: targeted genotyping by real-time PCR. Only the listed variants are assayed; variants outside this panel cannot be excluded.",
    "patientRef": "",
    "reportDate": "21 Oct 2026",
    "testedVariants": [
      {
        "gene": "DPYD",
        "variant": "rs3918290"
      },
      {
        "gene": "DPYD",
        "variant": "rs55886062"
      },
      {
        "gene": "DPYD",
        "variant": "rs67376798"
      },
      {
        "gene": "UGT1A1",
        "variant": "rs3064744"
      }
    ],
    "warnings": [
      "Only the listed variants are assayed; variants outside this panel cannot be excluded."
    ]
  },
  "quality": {
    "identifierRemoved": true,
    "unread": [],
    "coverage": [
      {
        "gene": "DPYD",
        "variant": "HapB3",
        "stated": false,
        "why": "Most common Indian decreased-function DPYD variant (~3.3%, PMID 40810747)"
      },
      {
        "gene": "DPYD",
        "variant": "c.85T>C (*9A)",
        "stated": false,
        "why": "~25% in Indians; toxicity signal in South Indian cohorts (PMC11300675)"
      },
      {
        "gene": "DPYD",
        "variant": "*2A",
        "stated": true,
        "why": "European tier-1 variant; rare in Indians (PMID 40810747)"
      },
      {
        "gene": "DPYD",
        "variant": "*13",
        "stated": true,
        "why": "Tier-1 no-function variant (PMID 39032821)"
      },
      {
        "gene": "DPYD",
        "variant": "c.2846A>T",
        "stated": true,
        "why": "Tier-1 variant; near-absent in Indians (PMID 40810747)"
      },
      {
        "gene": "UGT1A1",
        "variant": "*28",
        "stated": true,
        "why": "TA-repeat allele, common in South Asians"
      },
      {
        "gene": "UGT1A1",
        "variant": "*6",
        "stated": false,
        "why": "East Asian allele; reported at low frequency in India"
      }
    ],
    "warnings": [
      "Only the listed variants are assayed; variants outside this panel cannot be excluded."
    ]
  },
  "review": null,
  "pharmcat": {
    "version": "3.4.0",
    "data": "2026-07-13-11-40"
  },
  "note": "Research record. Not medical advice."
}