{
  "url": "https://dantelabs.com/sv/genes/lhcgr",
  "gene": {
    "slug": "lhcgr",
    "symbol": "LHCGR",
    "name": "luteinizing hormone/choriogonadotropin receptor",
    "hgnc": "HGNC:6585",
    "summary": null,
    "location": "2p16.3",
    "locusType": "gene with protein product",
    "aliases": [
      "LHR",
      "LCGR",
      "LGR2",
      "ULG5"
    ],
    "previousSymbols": [
      "HHG"
    ],
    "ensemblId": "ENSG00000138039",
    "entrezId": 3973,
    "omim": [
      "152790"
    ],
    "uniprot": [
      "P22888"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 48686774,
      "end": 48755724,
      "strand": "-",
      "ensemblTranscript": "ENST00000294954.12",
      "refseqTranscript": "NM_000233.4",
      "ensemblProtein": "ENSP00000294954.6",
      "refseqProtein": "NP_000224.2",
      "exons": [
        {
          "start": 48686774,
          "end": 48688849
        },
        {
          "start": 48694224,
          "end": 48694304
        },
        {
          "start": 48698615,
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          "end": 48709022
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        {
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        {
          "start": 48723456,
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        {
          "start": 48723622,
          "end": 48723696
        },
        {
          "start": 48725676,
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        },
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          "start": 48729153,
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        },
        {
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        {
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        }
      ],
      "cds": {
        "start": 48687697,
        "end": 48755671
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 48859428,
      "end": 48982880,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 48221249,
      "end": 49221248,
      "genes": [
        {
          "symbol": "FOXN2",
          "ensemblId": "ENSG00000170802",
          "biotype": "protein_coding",
          "start": 48314331,
          "end": 48379513,
          "strand": "+",
          "slug": "foxn2"
        },
        {
          "symbol": "PPP1R21",
          "ensemblId": "ENSG00000162869",
          "biotype": "protein_coding",
          "start": 48440598,
          "end": 48516174,
          "strand": "+",
          "slug": "ppp1r21"
        },
        {
          "symbol": "STON1",
          "ensemblId": "ENSG00000243244",
          "biotype": "protein_coding",
          "start": 48529376,
          "end": 48598922,
          "strand": "+",
          "slug": "ston1"
        },
        {
          "symbol": "STON1-GTF2A1L",
          "ensemblId": "ENSG00000068781",
          "biotype": "protein_coding",
          "start": 48529925,
          "end": 48776517,
          "strand": "+",
          "slug": "ston1-gtf2a1l"
        },
        {
          "symbol": "GTF2A1L",
          "ensemblId": "ENSG00000242441",
          "biotype": "protein_coding",
          "start": 48617798,
          "end": 48733148,
          "strand": "+",
          "slug": "gtf2a1l"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000279956",
          "biotype": "protein_coding",
          "start": 48632291,
          "end": 48755724,
          "strand": "-"
        },
        {
          "symbol": "FSHR",
          "ensemblId": "ENSG00000170820",
          "biotype": "protein_coding",
          "start": 48962157,
          "end": 49154527,
          "strand": "-",
          "slug": "fshr"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "46-xy-differences-of-sex-development",
        "name": "46,XY-variationer i könsutveckling och gonadal dysgenesi",
        "diseases": [
          {
            "mondoId": "MONDO:0009384",
            "name": "Leydigcellshypoplasi",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Ett recessivt tillstånd orsakat av varianter i LHCGR där testosteronproduktionen är nedsatt, vilket leder till otillräcklig maskulinisering hos personer med XY-kromosomer.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/46-xy-differences-of-sex-development"
      },
      {
        "slug": "monogenic-precocious-puberty",
        "name": "Monogen prekoce puberteti",
        "diseases": [
          {
            "mondoId": "MONDO:0008303",
            "name": "Familjär pojkbegränsad prekoce puberteti",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Tidig puberteti hos pojkar orsakad av aktiverande varianter i LHCGR, oberoende av signaler från hjärnan; kvinnliga bärare påverkas inte.",
            "management": "Behandling som blockerar produktionen eller verkan av testosteron kan bromsa den tidiga puberteten.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/monogenic-precocious-puberty"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "acne",
        "name": "Acne",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acne"
      },
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "slug": "precocious-puberty",
        "name": "Early onset of puberty",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/precocious-puberty"
      },
      {
        "slug": "precocious-puberty-in-males",
        "name": "Early onset of puberty in males",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/precocious-puberty-in-males"
      },
      {
        "slug": "hypergonadotropic-hypogonadism",
        "name": "Hypergonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "macroorchidism",
        "name": "Large testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macroorchidism"
      },
      {
        "slug": "long-penis",
        "name": "Long penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-penis"
      },
      {
        "slug": "oligozoospermia",
        "name": "Low sperm count",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligozoospermia"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tall-stature"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}