{
  "record": {
    "id": "684af8b2b30e",
    "label": "IndiPGx-Read D-r09",
    "cohort": "demo",
    "source": "report",
    "createdAt": "2026-10-30T06:26:29.709Z"
  },
  "calls": [
    {
      "gene": "DPYD",
      "diplotype": "c.85T>C (*9A)/c.1129-5923C>G, c.1236G>A (HapB3)",
      "phenotype": "Intermediate Metabolizer",
      "activityScore": "1.5",
      "source": "OUTSIDE"
    },
    {
      "gene": "NUDT15",
      "diplotype": "*1/*3",
      "phenotype": "Intermediate Metabolizer",
      "source": "OUTSIDE"
    },
    {
      "gene": "TPMT",
      "diplotype": "*1/*1",
      "phenotype": "Normal Metabolizer",
      "source": "OUTSIDE"
    },
    {
      "gene": "UGT1A1",
      "diplotype": "*28/*28",
      "phenotype": "Poor Metabolizer",
      "source": "OUTSIDE"
    }
  ],
  "extract": {
    "genes": [
      {
        "activityScore": "",
        "diplotype": "HapB3/c.85T>C",
        "gene": "DPYD",
        "phenotype": "",
        "verbatim": "DPYD rs75017182 C/G Heterozygous; DPYD rs1801265 A/G Heterozygous; DPYD rs3918290 C/C Wild type; DPYD rs55886062 A/A Wild type; DPYD rs67376798 T/T Wild type"
      },
      {
        "activityScore": "",
        "diplotype": "*1/*1",
        "gene": "TPMT",
        "phenotype": "",
        "verbatim": "TPMT rs1142345 A/A Wild type; TPMT rs1800460 C/C Wild type"
      },
      {
        "activityScore": "",
        "diplotype": "*1/*3",
        "gene": "NUDT15",
        "phenotype": "",
        "verbatim": "NUDT15 rs116855232 C/T Heterozygous"
      },
      {
        "activityScore": "",
        "diplotype": "*28/*28",
        "gene": "UGT1A1",
        "phenotype": "",
        "verbatim": "UGT1A1 rs3064744 (TA)7/(TA)7 Homozygous; UGT1A1 rs4148323 G/G Wild type"
      }
    ],
    "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": "14 Oct 2026",
    "testedVariants": [
      {
        "gene": "DPYD",
        "variant": "rs75017182"
      },
      {
        "gene": "DPYD",
        "variant": "rs1801265"
      },
      {
        "gene": "DPYD",
        "variant": "rs3918290"
      },
      {
        "gene": "DPYD",
        "variant": "rs55886062"
      },
      {
        "gene": "DPYD",
        "variant": "rs67376798"
      },
      {
        "gene": "TPMT",
        "variant": "rs1142345"
      },
      {
        "gene": "TPMT",
        "variant": "rs1800460"
      },
      {
        "gene": "NUDT15",
        "variant": "rs116855232"
      },
      {
        "gene": "UGT1A1",
        "variant": "rs3064744"
      },
      {
        "gene": "UGT1A1",
        "variant": "rs4148323"
      }
    ],
    "warnings": [
      "Star-allele assignment is left to the treating clinician; diplotypes inferred from rsID mapping per schema.",
      "Only the listed variants are assayed; variants outside this panel cannot be excluded."
    ]
  },
  "quality": {
    "identifierRemoved": true,
    "unread": [],
    "coverage": [
      {
        "gene": "DPYD",
        "variant": "HapB3",
        "stated": true,
        "why": "Most common Indian decreased-function DPYD variant (~3.3%, PMID 40810747)"
      },
      {
        "gene": "DPYD",
        "variant": "c.85T>C (*9A)",
        "stated": true,
        "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": "NUDT15",
        "variant": "*3",
        "stated": true,
        "why": "Main NUDT15 risk allele, ~7-11% in Indians (PMID 29470173)"
      },
      {
        "gene": "UGT1A1",
        "variant": "*28",
        "stated": true,
        "why": "TA-repeat allele, common in South Asians"
      },
      {
        "gene": "UGT1A1",
        "variant": "*6",
        "stated": true,
        "why": "East Asian allele; reported at low frequency in India"
      },
      {
        "gene": "TPMT",
        "variant": "*3C",
        "stated": true,
        "why": "Most common TPMT variant in South Asians"
      }
    ],
    "warnings": [
      "Star-allele assignment is left to the treating clinician; diplotypes inferred from rsID mapping per schema.",
      "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."
}