{
  "url": "https://dantelabs.com/genes/f9/variants/v30i",
  "gene": {
    "slug": "f9",
    "symbol": "F9",
    "hgnc": "HGNC:3551",
    "url": "https://dantelabs.com/genes/f9"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "f9",
      "symbol": "F9",
      "hgnc": "HGNC:3551"
    },
    "slug": "v30i",
    "name": "V30I",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-16-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-16"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000133.4(F9):c.88G>A (p.Val30Ile)",
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "val30ile",
      "c-88g-a",
      "ca414434500"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA414434500",
      "rsIds": [
        "rs1603263395"
      ],
      "clinvarVariationId": 651569,
      "vcv": "VCV000651569",
      "clinvarAlleleId": 649734
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "X",
        "pos": 139530852,
        "ref": "G",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "X",
        "pos": 138613011,
        "ref": "G",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_000133.4",
      "maneSelect": true,
      "hgvsC": "c.88G>A",
      "hgvsP": "p.Val30Ile",
      "consequences": [
        "missense_variant",
        "exonic_splice_region_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0010604",
        "name": "hemophilia B",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000651569",
        "submissions": 1,
        "lastEvaluated": "2024-05-09",
        "expertPanel": "ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen"
      }
    ],
    "reports": [
      {
        "slug": "haemophilia",
        "diseases": [
          {
            "mondoId": "MONDO:0018660",
            "name": "Hemophilia",
            "inheritance": "x-linked-recessive"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "haemophilia",
      "name": "Haemophilia",
      "diseases": [
        {
          "mondoId": "MONDO:0018660",
          "name": "Hemophilia",
          "inheritance": "x-linked-recessive",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/haemophilia"
    }
  ]
}