{
  "url": "https://dantelabs.com/genes/ush2a/variants/c759f",
  "gene": {
    "slug": "ush2a",
    "symbol": "USH2A",
    "hgnc": "HGNC:12601",
    "url": "https://dantelabs.com/genes/ush2a"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "ush2a",
      "symbol": "USH2A",
      "hgnc": "HGNC:12601"
    },
    "slug": "c759f",
    "name": "C759F",
    "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_206933.4(USH2A):c.2276G>T (p.Cys759Phe)",
    "classification": "pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [
      "USH2A, CYS759PHE (rs80338902)"
    ],
    "aliases": [
      "cys759phe",
      "c-2276g-t",
      "rs80338902",
      "ca252233",
      "ush2a-cys759phe-rs80338902"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA252233",
      "rsIds": [
        "rs80338902"
      ],
      "clinvarVariationId": 2356,
      "vcv": "VCV000002356",
      "clinvarAlleleId": 17395
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "1",
        "pos": 216247118,
        "ref": "C",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "1",
        "pos": 216420460,
        "ref": "C",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_206933.4",
      "maneSelect": true,
      "hgvsC": "c.2276G>T",
      "hgvsP": "p.Cys759Phe",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0019501",
        "name": "Usher Syndrome",
        "classification": "pathogenic",
        "stars": 3,
        "vcv": "VCV000002356",
        "submissions": 1,
        "lastEvaluated": "2019-07-28",
        "expertPanel": "ClinGen Hearing Loss Variant Curation Expert Panel"
      }
    ],
    "reports": [
      {
        "slug": "usher-syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0019501",
            "name": "Usher Syndrome",
            "inheritance": "autosomal-recessive"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "usher-syndrome",
      "name": "Usher Syndrome",
      "diseases": [
        {
          "mondoId": "MONDO:0019501",
          "name": "Usher Syndrome",
          "inheritance": "autosomal-recessive",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/usher-syndrome"
    }
  ]
}