{
  "url": "https://dantelabs.com/genes/rasa1",
  "gene": {
    "slug": "rasa1",
    "symbol": "RASA1",
    "name": "RAS p21 protein activator 1",
    "hgnc": "HGNC:9871",
    "summary": null,
    "location": "5q14.3",
    "locusType": "gene with protein product",
    "aliases": [
      "GAP",
      "CM-AVM",
      "p120GAP",
      "p120RASGAP",
      "p120"
    ],
    "previousSymbols": [
      "RASA"
    ],
    "ensemblId": "ENSG00000145715",
    "entrezId": 5921,
    "omim": [
      "139150"
    ],
    "uniprot": [
      "P20936"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 87267883,
      "end": 87391916,
      "strand": "+",
      "ensemblTranscript": "ENST00000274376.11",
      "refseqTranscript": "NM_002890.3",
      "ensemblProtein": "ENSP00000274376.6",
      "refseqProtein": "NP_002881.1",
      "exons": [
        {
          "start": 87267883,
          "end": 87268990
        },
        {
          "start": 87331348,
          "end": 87331500
        },
        {
          "start": 87332507,
          "end": 87332642
        },
        {
          "start": 87333267,
          "end": 87333337
        },
        {
          "start": 87337974,
          "end": 87338091
        },
        {
          "start": 87341290,
          "end": 87341321
        },
        {
          "start": 87346672,
          "end": 87346724
        },
        {
          "start": 87349214,
          "end": 87349364
        },
        {
          "start": 87353157,
          "end": 87353235
        },
        {
          "start": 87362551,
          "end": 87362671
        },
        {
          "start": 87363348,
          "end": 87363504
        },
        {
          "start": 87369813,
          "end": 87369900
        },
        {
          "start": 87372118,
          "end": 87372195
        },
        {
          "start": 87374163,
          "end": 87374320
        },
        {
          "start": 87374840,
          "end": 87374916
        },
        {
          "start": 87376393,
          "end": 87376565
        },
        {
          "start": 87376881,
          "end": 87377040
        },
        {
          "start": 87378396,
          "end": 87378538
        },
        {
          "start": 87379735,
          "end": 87379850
        },
        {
          "start": 87380509,
          "end": 87380595
        },
        {
          "start": 87383713,
          "end": 87383780
        },
        {
          "start": 87385301,
          "end": 87385389
        },
        {
          "start": 87386826,
          "end": 87386903
        },
        {
          "start": 87389393,
          "end": 87389527
        },
        {
          "start": 87390800,
          "end": 87391916
        }
      ],
      "cds": {
        "start": 87268452,
        "end": 87390883
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 86563705,
      "end": 86687748,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 86829900,
      "end": 87829899,
      "genes": [
        {
          "symbol": "CCNH",
          "ensemblId": "ENSG00000134480",
          "biotype": "protein_coding",
          "start": 87311473,
          "end": 87413029,
          "strand": "-",
          "slug": "ccnh"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-vascular-malformations",
        "name": "Hereditary Vascular Malformations",
        "diseases": [
          {
            "mondoId": "MONDO:0012016",
            "name": "Capillary Malformation-Arteriovenous Malformation Syndrome",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "A condition caused by changes in RASA1 or EPHB4 that causes multiple small pink-red skin marks and, in some people, fast-flow arteriovenous malformations in the brain, spine or limbs.",
            "management": "Knowing about it supports brain and spine imaging and screening of relatives.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/hereditary-vascular-malformations"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-b-type-natriuretic-peptide-concentration",
        "name": "Abnormal circulating B-type natriuretic peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-b-type-natriuretic-peptide-concentration"
      },
      {
        "slug": "abnormal-lymphatic-vessel-morphology",
        "name": "Abnormal lymphatic vessel morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-lymphatic-vessel-morphology"
      },
      {
        "slug": "abnormality-of-the-lower-limb",
        "name": "Abnormality of the lower limb",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-lower-limb"
      },
      {
        "slug": "abnormality-of-the-upper-limb",
        "name": "Abnormality of the upper limb",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-upper-limb"
      },
      {
        "slug": "abnormal-femoral-metaphysis-morphology",
        "name": "Abnormality of the wide portion of the femoral bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-femoral-metaphysis-morphology"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "arteriovenous-fistula",
        "name": "Arteriovenous fistula",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arteriovenous-fistula"
      },
      {
        "slug": "arteriovenous-malformation",
        "name": "Arteriovenous malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arteriovenous-malformation"
      },
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "basal-cell-carcinoma",
        "name": "Basal cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/basal-cell-carcinoma"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "bounding-pulse",
        "name": "Bounding pulse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bounding-pulse"
      },
      {
        "slug": "capillary-malformation",
        "name": "Capillary malformation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/capillary-malformation"
      },
      {
        "slug": "cerebral-arteriovenous-malformation",
        "name": "Cerebral arteriovenous malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-arteriovenous-malformation"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "conus-terminalis-arteriovenous-malformation",
        "name": "Conus terminalis arteriovenous malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conus-terminalis-arteriovenous-malformation"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "disseminated-intravascular-coagulation",
        "name": "Disseminated intravascular coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation"
      },
      {
        "slug": "dural-ectasia",
        "name": "Dural ectasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dural-ectasia"
      },
      {
        "slug": "erythematous-plaque",
        "name": "Erythematous plaque",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythematous-plaque"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hemangiomatosis",
        "name": "Hemangiomatosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hemangiomatosis"
      },
      {
        "slug": "high-output-congestive-heart-failure",
        "name": "High-output congestive heart failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-output-congestive-heart-failure"
      },
      {
        "slug": "hypertrophy-of-the-upper-limb",
        "name": "Increased size of upper limb",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophy-of-the-upper-limb"
      },
      {
        "slug": "paraplegia",
        "name": "Leg paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/paraplegia"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "lower-limb-pain",
        "name": "Lower limb pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-pain"
      },
      {
        "slug": "muscle-hypertrophy-of-the-lower-extremities",
        "name": "Muscle hypertrophy of the lower extremities",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-hypertrophy-of-the-lower-extremities"
      },
      {
        "slug": "myelopathy",
        "name": "Myelopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelopathy"
      },
      {
        "slug": "neck-pain",
        "name": "Neck pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neck-pain"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "hemihypertrophy-of-lower-limb",
        "name": "Overgrowth of one leg",
        "systems": [
          "abnormality-of-limbs",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemihypertrophy-of-lower-limb"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "peripheral-arteriovenous-fistula",
        "name": "Peripheral arteriovenous fistula",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-arteriovenous-fistula"
      },
      {
        "slug": "prominent-superficial-blood-vessels",
        "name": "Prominent superficial blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-superficial-blood-vessels"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "spinal-arteriovenous-malformation",
        "name": "Spinal arteriovenous malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spinal-arteriovenous-malformation"
      },
      {
        "slug": "capillary-hemangioma",
        "name": "Strawberry birthmark",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/capillary-hemangioma"
      },
      {
        "slug": "subarachnoid-hemorrhage",
        "name": "Subarachnoid hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage"
      },
      {
        "slug": "vascular-tortuosity",
        "name": "Twisted blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vascular-tortuosity"
      },
      {
        "slug": "urinary-retention",
        "name": "Urinary retention",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-retention"
      },
      {
        "slug": "abnormality-of-the-urinary-system",
        "name": "Urinary tract abnormalities",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system"
      },
      {
        "slug": "varicose-veins",
        "name": "Varicose veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/varicose-veins"
      },
      {
        "slug": "venous-malformation",
        "name": "Venous malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/venous-malformation"
      }
    ],
    "related": [
      {
        "slug": "ephb4",
        "symbol": "EPHB4",
        "name": "EPH receptor B4",
        "shared": 1,
        "url": "https://dantelabs.com/genes/ephb4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}