{
  "url": "https://dantelabs.com/genes/gla/variants/c52s",
  "gene": {
    "slug": "gla",
    "symbol": "GLA",
    "hgnc": "HGNC:4296",
    "url": "https://dantelabs.com/genes/gla"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "gla",
      "symbol": "GLA",
      "hgnc": "HGNC:4296"
    },
    "slug": "c52s",
    "name": "C52S",
    "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_000169.3(GLA):c.155G>C (p.Cys52Ser)",
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "cys52ser",
      "c-155g-c",
      "rs869312256",
      "clinvar-allele-224118"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "clinvar.allele:224118",
      "rsIds": [
        "rs869312256"
      ],
      "clinvarVariationId": 4087280,
      "vcv": "VCV004087280",
      "clinvarAlleleId": 224118
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "X",
        "pos": 101407749,
        "ref": "C",
        "alt": "G"
      },
      {
        "build": "GRCh37",
        "chrom": "X",
        "pos": 100662737,
        "ref": "C",
        "alt": "G"
      }
    ],
    "consequence": {
      "transcript": "NM_000169.3",
      "maneSelect": true,
      "hgvsC": "c.155G>C",
      "hgvsP": "p.Cys52Ser",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0010526",
        "name": "Fabry Disease",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV004087280",
        "submissions": 3,
        "lastEvaluated": "2026-09-08"
      }
    ],
    "reports": [
      {
        "slug": "fabry-disease",
        "diseases": [
          {
            "mondoId": "MONDO:0010526",
            "name": "Fabry Disease",
            "inheritance": "x-linked-recessive"
          }
        ]
      },
      {
        "slug": "lysosomal-storage-disease",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomal storage disease (other and unspecified types)"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "fabry-disease",
      "name": "Fabry Disease",
      "diseases": [
        {
          "mondoId": "MONDO:0010526",
          "name": "Fabry Disease",
          "inheritance": "x-linked-recessive",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/fabry-disease"
    },
    {
      "slug": "lysosomal-storage-disease",
      "name": "Lysosomal Storage Disease",
      "diseases": [
        {
          "mondoId": "MONDO:0002561",
          "name": "Lysosomal storage disease (other and unspecified types)",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/lysosomal-storage-disease"
    }
  ]
}