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Gene entry

ATRX

ATRX chromatin remodeler

Chromosome
X
Cytoband
Xq21.1
Variants (rsID)
29

ATRX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq21.1). Its official name is “ATRX chromatin remodeler”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs148015780Benignsingle nucleotide variantAlpha thalassemia-X-linked intellectual disability syndrome|History of neurodevelopmental disorder
  • rs3088074Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1
  • rs45439799Benignsingle nucleotide variantAlpha thalassemia-X-linked intellectual disability syndrome|Atypical teratoid rhabdoid tumor|Astrocytoma, anaplastic|History of neurodevelopmental disorder
  • rs200420513Conflicting interpretationssingle nucleotide variantAlpha thalassemia-X-linked intellectual disability syndrome
  • rs122445103Likely pathogenicsingle nucleotide variantAlpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome
  • rs122445110Likely pathogenicsingle nucleotide variantIntellectual disability-hypotonic facies syndrome, X-linked|Inborn genetic diseases|History of neurodevelopmental disorder
  • rs122445099Pathogenicsingle nucleotide variantAlpha thalassemia-X-linked intellectual disability syndrome|Ambiguous genitalia|Cryptorchidism|Microcephaly|Intellectual disability, severe|Bone osteosarcoma|Intellectual disability-hypotonic facies syndrome, X-linked, 1
  • rs122445101Pathogenicsingle nucleotide variantIntellectual disability-hypotonic facies syndrome, X-linked|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome
  • rs122445105Pathogenicsingle nucleotide variantInborn genetic diseases|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Acquired hemoglobin H disease|Alpha thalassemia-X-linked intellectual disability syndrome|Renier-Gabreels-Jasper syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1
  • rs122445107Pathogenicsingle nucleotide variantAcquired hemoglobin H disease
  • rs122445108Pathogenicsingle nucleotide variantIntellectual disability-hypotonic facies syndrome, X-linked|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability|Intellectual disability-hypotonic facies syndrome, X-linked, 1
  • rs122445109Pathogenicsingle nucleotide variantIntellectual disability-hypotonic facies syndrome, X-linked
  • rs122445111Pathogenicsingle nucleotide variantIntellectual disability-hypotonic facies syndrome, X-linked|Inborn genetic diseases|Alpha thalassemia-X-linked intellectual disability syndrome
  • rs122445112Pathogenicsingle nucleotide variantIntellectual disability-hypotonic facies syndrome, X-linked
  • rs398123425Pathogenicsingle nucleotide variantIntellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability syndrome
  • rs797044723PathogenicMicrosatellite

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.