{
  "url": "https://dantelabs.com/genes/ldlr/variants/c104f",
  "gene": {
    "slug": "ldlr",
    "symbol": "LDLR",
    "hgnc": "HGNC:6547",
    "url": "https://dantelabs.com/genes/ldlr"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "ldlr",
      "symbol": "LDLR",
      "hgnc": "HGNC:6547"
    },
    "slug": "c104f",
    "name": "C104F",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-17-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-17"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)",
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "cys104phe",
      "c-311g-t",
      "ca10584839"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA10584839",
      "rsIds": [
        "rs875989895"
      ],
      "clinvarVariationId": 251130,
      "vcv": "VCV000251130",
      "clinvarAlleleId": 245473
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "19",
        "pos": 11102784,
        "ref": "G",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "19",
        "pos": 11213460,
        "ref": "G",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000527.5",
      "maneSelect": true,
      "hgvsC": "c.311G>T",
      "hgvsP": "p.Cys104Phe",
      "consequences": [
        "missense_variant",
        "exonic_splice_region_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "likely-pathogenic",
            "stars": 3
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0007750",
        "name": "hypercholesterolemia, familial, 1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000251130",
        "submissions": 1,
        "lastEvaluated": "2024-02-23",
        "expertPanel": "ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel"
      }
    ],
    "reports": [
      {
        "slug": "familial-hypercholesterolemia",
        "diseases": [
          {
            "mondoId": "MONDO:0005439",
            "name": "familial hypercholesterolemia"
          }
        ]
      },
      {
        "slug": "hyperlipidemia",
        "diseases": [
          {
            "mondoId": "MONDO:0021187",
            "name": "Hyperlipidemia"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "familial-hypercholesterolemia",
      "name": "Familial Hypercholesterolemia",
      "diseases": [
        {
          "mondoId": "MONDO:0005439",
          "name": "familial hypercholesterolemia",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/familial-hypercholesterolemia"
    },
    {
      "slug": "hyperlipidemia",
      "name": "Hyperlipidemia",
      "diseases": [
        {
          "mondoId": "MONDO:0021187",
          "name": "Hyperlipidemia",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/hyperlipidemia"
    }
  ]
}