{
  "url": "https://dantelabs.com/es/genes/rpa1",
  "gene": {
    "slug": "rpa1",
    "symbol": "RPA1",
    "name": "replication protein A1",
    "hgnc": "HGNC:10289",
    "summary": null,
    "location": "17p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "REPA1",
      "RPA70",
      "HSSB",
      "RF-A",
      "RP-A"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000132383",
    "entrezId": 6117,
    "omim": [
      "179835"
    ],
    "uniprot": [
      "P27694"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 1830005,
      "end": 1900082,
      "strand": "+",
      "ensemblTranscript": "ENST00000254719.10",
      "refseqTranscript": "NM_002945.5",
      "ensemblProtein": "ENSP00000254719.4",
      "refseqProtein": "NP_002936.1",
      "exons": [
        {
          "start": 1830005,
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        },
        {
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        {
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        }
      ],
      "cds": {
        "start": 1830094,
        "end": 1897175
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 1732996,
      "end": 1803376,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 1365044,
      "end": 2365043,
      "genes": [
        {
          "symbol": "YWHAE",
          "ensemblId": "ENSG00000108953",
          "biotype": "protein_coding",
          "start": 1344275,
          "end": 1400326,
          "strand": "-",
          "slug": "ywhae"
        },
        {
          "symbol": "CRK",
          "ensemblId": "ENSG00000167193",
          "biotype": "protein_coding",
          "start": 1420689,
          "end": 1463162,
          "strand": "-",
          "slug": "crk"
        },
        {
          "symbol": "MYO1C",
          "ensemblId": "ENSG00000197879",
          "biotype": "protein_coding",
          "start": 1464186,
          "end": 1492707,
          "strand": "-",
          "slug": "myo1c"
        },
        {
          "symbol": "INPP5K",
          "ensemblId": "ENSG00000132376",
          "biotype": "protein_coding",
          "start": 1494571,
          "end": 1516759,
          "strand": "-",
          "slug": "inpp5k"
        },
        {
          "symbol": "PITPNA",
          "ensemblId": "ENSG00000174238",
          "biotype": "protein_coding",
          "start": 1517718,
          "end": 1562861,
          "strand": "-",
          "slug": "pitpna"
        },
        {
          "symbol": "SLC43A2",
          "ensemblId": "ENSG00000167703",
          "biotype": "protein_coding",
          "start": 1569268,
          "end": 1630103,
          "strand": "-",
          "slug": "slc43a2"
        },
        {
          "symbol": "SCARF1",
          "ensemblId": "ENSG00000074660",
          "biotype": "protein_coding",
          "start": 1633848,
          "end": 1646122,
          "strand": "-",
          "slug": "scarf1"
        },
        {
          "symbol": "RILP",
          "ensemblId": "ENSG00000167705",
          "biotype": "protein_coding",
          "start": 1646138,
          "end": 1650083,
          "strand": "-",
          "slug": "rilp"
        },
        {
          "symbol": "PRPF8",
          "ensemblId": "ENSG00000174231",
          "biotype": "protein_coding",
          "start": 1650624,
          "end": 1684909,
          "strand": "-",
          "slug": "prpf8"
        },
        {
          "symbol": "TLCD2",
          "ensemblId": "ENSG00000185561",
          "biotype": "protein_coding",
          "start": 1688598,
          "end": 1710639,
          "strand": "-",
          "slug": "tlcd2"
        },
        {
          "symbol": "WDR81",
          "ensemblId": "ENSG00000167716",
          "biotype": "protein_coding",
          "start": 1716523,
          "end": 1738599,
          "strand": "+",
          "slug": "wdr81"
        },
        {
          "symbol": "SERPINF2",
          "ensemblId": "ENSG00000167711",
          "biotype": "protein_coding",
          "start": 1742069,
          "end": 1755271,
          "strand": "+",
          "slug": "serpinf2"
        },
        {
          "symbol": "SERPINF1",
          "ensemblId": "ENSG00000132386",
          "biotype": "protein_coding",
          "start": 1761958,
          "end": 1777627,
          "strand": "+",
          "slug": "serpinf1"
        },
        {
          "symbol": "SMYD4",
          "ensemblId": "ENSG00000186532",
          "biotype": "protein_coding",
          "start": 1779485,
          "end": 1830634,
          "strand": "-",
          "slug": "smyd4"
        },
        {
          "symbol": "RTN4RL1",
          "ensemblId": "ENSG00000185924",
          "biotype": "protein_coding",
          "start": 1934677,
          "end": 2025355,
          "strand": "-",
          "slug": "rtn4rl1"
        },
        {
          "symbol": "DPH1",
          "ensemblId": "ENSG00000108963",
          "biotype": "protein_coding",
          "start": 2030136,
          "end": 2043898,
          "strand": "+",
          "slug": "dph1"
        },
        {
          "symbol": "OVCA2",
          "ensemblId": "ENSG00000262664",
          "biotype": "protein_coding",
          "start": 2042022,
          "end": 2043898,
          "strand": "+",
          "slug": "ovca2"
        },
        {
          "symbol": "HIC1",
          "ensemblId": "ENSG00000177374",
          "biotype": "protein_coding",
          "start": 2054154,
          "end": 2063241,
          "strand": "+",
          "slug": "hic1"
        },
        {
          "symbol": "SMG6",
          "ensemblId": "ENSG00000070366",
          "biotype": "protein_coding",
          "start": 2059839,
          "end": 2303934,
          "strand": "-",
          "slug": "smg6"
        },
        {
          "symbol": "SRR",
          "ensemblId": "ENSG00000167720",
          "biotype": "protein_coding",
          "start": 2303383,
          "end": 2326656,
          "strand": "+",
          "slug": "srr"
        },
        {
          "symbol": "TSR1",
          "ensemblId": "ENSG00000167721",
          "biotype": "protein_coding",
          "start": 2322376,
          "end": 2337965,
          "strand": "-",
          "slug": "tsr1"
        },
        {
          "symbol": "SGSM2",
          "ensemblId": "ENSG00000141258",
          "biotype": "protein_coding",
          "start": 2337488,
          "end": 2381058,
          "strand": "+",
          "slug": "sgsm2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dyskeratosis-congenita",
        "name": "Disqueratosis congénita",
        "diseases": [
          {
            "mondoId": "MONDO:0100137",
            "name": "Síndromes de telómeros",
            "genes": 16,
            "inheritance": null,
            "description": "Trastornos de telómeros cortos causados por variantes en genes de mantenimiento de los telómeros, como TERT, TERC, RTEL1 y PARN, que pueden provocar insuficiencia de la médula ósea, fibrosis pulmonar y enfermedad hepática incluso sin los signos cutáneos clásicos.",
            "management": "Se recomienda el seguimiento de los recuentos sanguíneos, los pulmones y el hígado, y el diagnóstico orienta la selección de donantes y las opciones de tratamiento para el trasplante de células madre.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/dyskeratosis-congenita"
      },
      {
        "slug": "familial-pulmonary-fibrosis",
        "name": "Fibrosis Pulmonar Familiar",
        "diseases": [
          {
            "mondoId": "MONDO:0000148",
            "name": "Fibrosis Pulmonar y/o Insuficiencia Medular relacionadas con los telómeros",
            "genes": 7,
            "inheritance": null,
            "description": "Las variantes en genes de mantenimiento de los telómeros, como TERT, TERC, RTEL1 y PARN, pueden causar fibrosis pulmonar progresiva en la edad adulta, a veces junto con insuficiencia medular o enfermedad hepática.",
            "management": "Conocer esta información puede permitir un seguimiento pulmonar y un tratamiento más tempranos, la detección de afectación sanguínea y hepática, un cuidado especial con los fármacos inmunosupresores en torno al trasplante y una selección cuidadosa de donantes emparentados.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/familial-pulmonary-fibrosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormally-low-t-cell-receptor-excision-circle-level",
        "name": "Abnormally low T cell receptor excision circle level",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormally-low-t-cell-receptor-excision-circle-level"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "oral-leukoplakia",
        "name": "Oral white patch",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oral-leukoplakia"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "reticular-hyperpigmentation",
        "name": "Reticular hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reticular-hyperpigmentation"
      },
      {
        "slug": "short-telomere-length",
        "name": "Short telomere length",
        "systems": [
          "abnormal-cellular-phenotype"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-telomere-length"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      }
    ],
    "related": [
      {
        "slug": "naf1",
        "symbol": "NAF1",
        "name": "nuclear assembly factor 1 ribonucleoprotein",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/naf1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "name": "poly(A)-specific ribonuclease",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/parn"
      },
      {
        "slug": "pot1",
        "symbol": "POT1",
        "name": "protection of telomeres 1",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/pot1"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "name": "regulator of telomere elongation helicase 1",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/rtel1"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "name": "telomerase reverse transcriptase",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/tert"
      },
      {
        "slug": "zcchc8",
        "symbol": "ZCCHC8",
        "name": "zinc finger CCHC-type containing 8",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/zcchc8"
      },
      {
        "slug": "acd",
        "symbol": "ACD",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/acd"
      },
      {
        "slug": "cdca7",
        "symbol": "CDCA7",
        "name": "cell division cycle associated 7",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/cdca7"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "name": "CST telomere replication complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/ctc1"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "name": "DNA methyltransferase 3 beta",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/dnmt3b"
      },
      {
        "slug": "hells",
        "symbol": "HELLS",
        "name": "helicase, lymphoid specific",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/hells"
      },
      {
        "slug": "pola2",
        "symbol": "POLA2",
        "name": "DNA polymerase alpha 2, accessory subunit",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/pola2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}