{
  "url": "https://dantelabs.com/genes/col3a1/variants/e241k",
  "gene": {
    "slug": "col3a1",
    "symbol": "COL3A1",
    "hgnc": "HGNC:2201",
    "url": "https://dantelabs.com/genes/col3a1"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "col3a1",
      "symbol": "COL3A1",
      "hgnc": "HGNC:2201"
    },
    "slug": "e241k",
    "name": "E241K",
    "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_000090.4(COL3A1):c.721G>A (p.Glu241Lys)",
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "glu241lys",
      "c-721g-a",
      "rs1553507432",
      "ca349849021"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA349849021",
      "rsIds": [
        "rs1553507432"
      ],
      "clinvarVariationId": 529313,
      "vcv": "VCV000529313",
      "clinvarAlleleId": 517419
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "2",
        "pos": 188990126,
        "ref": "G",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "2",
        "pos": 189854852,
        "ref": "G",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_000090.4",
      "maneSelect": true,
      "hgvsC": "c.721G>A",
      "hgvsP": "p.Glu241Lys",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0017314",
        "name": "Ehlers-Danlos syndrome, vascular type",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000529313",
        "submissions": 2,
        "lastEvaluated": "2025-12-28"
      }
    ],
    "reports": [
      {
        "slug": "ehlers-danlos-syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0020066",
            "name": "Ehlers-Danlos syndrome"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "ehlers-danlos-syndrome",
      "name": "Ehlers-Danlos Syndrome",
      "diseases": [
        {
          "mondoId": "MONDO:0020066",
          "name": "Ehlers-Danlos syndrome",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/ehlers-danlos-syndrome"
    }
  ]
}