{
  "url": "https://dantelabs.com/de/genes/rasgrp1",
  "gene": {
    "slug": "rasgrp1",
    "symbol": "RASGRP1",
    "name": "RAS guanyl releasing protein 1",
    "hgnc": "HGNC:9878",
    "summary": null,
    "location": "15q14",
    "locusType": "gene with protein product",
    "aliases": [
      "CalDAG-GEFII",
      "RASGRP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000172575",
    "entrezId": 10125,
    "omim": [
      "603962"
    ],
    "uniprot": [
      "O95267"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 38488103,
      "end": 38564814,
      "strand": "-",
      "ensemblTranscript": "ENST00000310803.10",
      "refseqTranscript": "NM_005739.4",
      "ensemblProtein": "ENSP00000310244.5",
      "refseqProtein": "NP_005730.2",
      "exons": [
        {
          "start": 38488103,
          "end": 38490688
        },
        {
          "start": 38494382,
          "end": 38494767
        },
        {
          "start": 38498794,
          "end": 38498946
        },
        {
          "start": 38500103,
          "end": 38500139
        },
        {
          "start": 38501143,
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        },
        {
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        },
        {
          "start": 38503272,
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        },
        {
          "start": 38505840,
          "end": 38505920
        },
        {
          "start": 38507726,
          "end": 38508001
        },
        {
          "start": 38511604,
          "end": 38511720
        },
        {
          "start": 38512783,
          "end": 38512956
        },
        {
          "start": 38516197,
          "end": 38516350
        },
        {
          "start": 38518292,
          "end": 38518423
        },
        {
          "start": 38519309,
          "end": 38519371
        },
        {
          "start": 38526299,
          "end": 38526404
        },
        {
          "start": 38559821,
          "end": 38560005
        },
        {
          "start": 38564594,
          "end": 38564814
        }
      ],
      "cds": {
        "start": 38490554,
        "end": 38564628
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 38780304,
      "end": 38857776,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 38026459,
      "end": 39026458,
      "genes": [
        {
          "symbol": "SPRED1",
          "ensemblId": "ENSG00000166068",
          "biotype": "protein_coding",
          "start": 38252076,
          "end": 38358502,
          "strand": "+",
          "slug": "spred1"
        },
        {
          "symbol": "TSLIG3B",
          "ensemblId": "ENSG00000171262",
          "biotype": "protein_coding",
          "start": 38454107,
          "end": 38487710,
          "strand": "+",
          "slug": "tslig3b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Sonstige angeborene Immundefekte",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immundefekterkrankung",
            "genes": 170,
            "inheritance": null,
            "description": "Erkrankung, bei der ein Mangel oder Defekt der Immunmechanismen vorliegt, entweder zellulärer oder humoraler Art.",
            "management": "HSCT bei SCID und schweren PID; Immunglobulinsubstitution (IVIG/SCIG) bei Antikörpermangelerkrankungen; Leniolisib (Joenja, FDA 2023) bei APDS; Gentherapie bei ADA-SCID; Abatacept bei CTLA4/LRBA-Mangel; prophylaktische Antibiotika; G-CSF bei CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cd4-cd8-ratio",
        "name": "Abnormal CD4:CD8 ratio",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-cd4-cd8-ratio"
      },
      {
        "slug": "abnormal-t-cell-proliferation",
        "name": "Abnormal T cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-t-cell-proliferation"
      },
      {
        "slug": "anti-thyroglobulin-antibody-positivity",
        "name": "Anti-thyroglobulin antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-thyroglobulin-antibody-positivity"
      },
      {
        "slug": "anti-thyroid-peroxidase-antibody-positivity",
        "name": "Anti-thyroid peroxidase antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-thyroid-peroxidase-antibody-positivity"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "b-cell-lymphoma",
        "name": "B-cell lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/b-cell-lymphoma"
      },
      {
        "slug": "clubbing-of-fingers",
        "name": "Clubbing of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clubbing-of-fingers"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-mitogen-induced-t-cell-proliferation",
        "name": "Decreased mitogen-induced T-cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-mitogen-induced-t-cell-proliferation"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "increased-cd21low-b-cell-proportion",
        "name": "Increased CD21low B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-cd21low-b-cell-proportion"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-igg-concentration",
        "name": "Increased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-igg-concentration"
      },
      {
        "slug": "increased-circulating-igm-concentration",
        "name": "Increased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-igm-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "mediastinal-lymphadenopathy",
        "name": "Swollen lymph nodes in center of chest",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-thoracic-cavity"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mediastinal-lymphadenopathy"
      },
      {
        "slug": "cervical-lymphadenopathy",
        "name": "Swollen lymph nodes in the neck",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cervical-lymphadenopathy"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}