{
  "url": "https://dantelabs.com/fr/genes/nans",
  "gene": {
    "slug": "nans",
    "symbol": "NANS",
    "name": "N-acetylneuraminate synthase",
    "hgnc": "HGNC:19237",
    "summary": null,
    "location": "9q22.33",
    "locusType": "gene with protein product",
    "aliases": [
      "SAS"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000095380",
    "entrezId": 54187,
    "omim": [
      "605202"
    ],
    "uniprot": [
      "Q9NR45"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 98056732,
      "end": 98083077,
      "strand": "+",
      "ensemblTranscript": "ENST00000210444.6",
      "refseqTranscript": "NM_018946.4",
      "ensemblProtein": "ENSP00000210444.5",
      "refseqProtein": "NP_061819.2",
      "exons": [
        {
          "start": 98056732,
          "end": 98056940
        },
        {
          "start": 98060782,
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        },
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        {
          "start": 98078193,
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        },
        {
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          "end": 98081082
        },
        {
          "start": 98082846,
          "end": 98083077
        }
      ],
      "cds": {
        "start": 98056809,
        "end": 98083055
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 100819021,
      "end": 100845357,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 97569905,
      "end": 98569904,
      "genes": [
        {
          "symbol": "TMOD1",
          "ensemblId": "ENSG00000136842",
          "biotype": "protein_coding",
          "start": 97501180,
          "end": 97606817,
          "strand": "+",
          "slug": "tmod1"
        },
        {
          "symbol": "TSTD2",
          "ensemblId": "ENSG00000136925",
          "biotype": "protein_coding",
          "start": 97600080,
          "end": 97633576,
          "strand": "-",
          "slug": "tstd2"
        },
        {
          "symbol": "NCBP1",
          "ensemblId": "ENSG00000136937",
          "biotype": "protein_coding",
          "start": 97633402,
          "end": 97676992,
          "strand": "+",
          "slug": "ncbp1"
        },
        {
          "symbol": "XPA",
          "ensemblId": "ENSG00000136936",
          "biotype": "protein_coding",
          "start": 97653139,
          "end": 97697408,
          "strand": "-",
          "slug": "xpa"
        },
        {
          "symbol": "FOXE1",
          "ensemblId": "ENSG00000178919",
          "biotype": "protein_coding",
          "start": 97853226,
          "end": 97856717,
          "strand": "+",
          "slug": "foxe1"
        },
        {
          "symbol": "TRMO",
          "ensemblId": "ENSG00000136932",
          "biotype": "protein_coding",
          "start": 97894512,
          "end": 97922570,
          "strand": "-",
          "slug": "trmo"
        },
        {
          "symbol": "HEMGN",
          "ensemblId": "ENSG00000136929",
          "biotype": "protein_coding",
          "start": 97926791,
          "end": 97944856,
          "strand": "-",
          "slug": "hemgn"
        },
        {
          "symbol": "ANP32B",
          "ensemblId": "ENSG00000136938",
          "biotype": "protein_coding",
          "start": 97983126,
          "end": 98017079,
          "strand": "+",
          "slug": "anp32b"
        },
        {
          "symbol": "TRIM14",
          "ensemblId": "ENSG00000106785",
          "biotype": "protein_coding",
          "start": 98035242,
          "end": 98119404,
          "strand": "-",
          "slug": "trim14"
        },
        {
          "symbol": "CORO2A",
          "ensemblId": "ENSG00000106789",
          "biotype": "protein_coding",
          "start": 98120975,
          "end": 98193206,
          "strand": "-",
          "slug": "coro2a"
        },
        {
          "symbol": "TBC1D2",
          "ensemblId": "ENSG00000095383",
          "biotype": "protein_coding",
          "start": 98198999,
          "end": 98256427,
          "strand": "-",
          "slug": "tbc1d2"
        },
        {
          "symbol": "GABBR2",
          "ensemblId": "ENSG00000136928",
          "biotype": "protein_coding",
          "start": 98288087,
          "end": 98709739,
          "strand": "-",
          "slug": "gabbr2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "advanced-ossification-of-carpal-bones",
        "name": "Accelerated wrist bone maturation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/advanced-ossification-of-carpal-bones"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "flared-metaphysis",
        "name": "Flared wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flared-metaphysis"
      },
      {
        "slug": "flat-acetabular-roof",
        "name": "Flat acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flat-acetabular-roof"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "thick-vermilion-border",
        "name": "Full lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thick-vermilion-border"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irregular-epiphyses",
        "name": "Irregular end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-epiphyses"
      },
      {
        "slug": "irregular-vertebral-endplates",
        "name": "Irregular vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-vertebral-endplates"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "long-fibula",
        "name": "Long fibula",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/long-fibula"
      },
      {
        "slug": "low-anterior-hairline",
        "name": "Low frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/low-anterior-hairline"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metaphyseal-striations",
        "name": "Metaphyseal striations",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-striations"
      },
      {
        "slug": "synophrys",
        "name": "Monobrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/synophrys"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "narrow-iliac-wing",
        "name": "Narrow iliac wing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/narrow-iliac-wing"
      },
      {
        "slug": "perisylvian-polymicrogyria",
        "name": "Perisylvian polymicrogyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perisylvian-polymicrogyria"
      },
      {
        "slug": "posterior-scalloping-of-vertebral-bodies",
        "name": "Posterior scalloping of vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/posterior-scalloping-of-vertebral-bodies"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "reduced-cerebral-white-matter-volume",
        "name": "Reduced cerebral white matter volume",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-cerebral-white-matter-volume"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "simple-ear",
        "name": "Simple ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/simple-ear"
      },
      {
        "slug": "small-basal-ganglia",
        "name": "Small basal ganglia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-basal-ganglia"
      },
      {
        "slug": "carpal-bone-hypoplasia",
        "name": "Small carpal bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/carpal-bone-hypoplasia"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "spondyloepimetaphyseal-dysplasia",
        "name": "Spondyloepimetaphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spondyloepimetaphyseal-dysplasia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-nose"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}