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Gene entry

ATP7A

ATPase copper transporting alpha

Chromosome
X
Cytoband
Xq21.1
Variants (rsID)
43

ATP7A 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 “ATPase copper transporting alpha”. The reference table lists 43 variants (rsID) for this gene.

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Clinically classified variants

23 reference-table entries with clinical significance.

  • rs2227291Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Menkes kinky-hair syndrome|X-linked distal spinal muscular atrophy type 3|Cutis laxa, X-linked|Menkes kinky-hair syndrome|X-linked distal spinal muscular atrophy type 3|Cutis laxa, X-linked
  • rs2228447Benignsingle nucleotide variantX-linked distal spinal muscular atrophy type 3|Menkes kinky-hair syndrome|Cutis laxa, X-linked|History of neurodevelopmental disorder|Ehlers-Danlos syndrome
  • rs2234935Benignsingle nucleotide variant
  • rs5959130Benignsingle nucleotide variantMenkes kinky-hair syndrome|X-linked distal spinal muscular atrophy type 3|Cutis laxa, X-linked|History of neurodevelopmental disorder
  • rs61742278Benignsingle nucleotide variantX-linked distal spinal muscular atrophy type 3|Cutis laxa, X-linked|Menkes kinky-hair syndrome|History of neurodevelopmental disorder|Ehlers-Danlos syndrome
  • rs138958687Conflicting interpretationssingle nucleotide variantMenkes kinky-hair syndrome|X-linked distal spinal muscular atrophy type 3|Cutis laxa, X-linked|Menkes kinky-hair syndrome|Ehlers-Danlos syndrome
  • rs143907597Conflicting interpretationssingle nucleotide variantX-linked distal spinal muscular atrophy type 3|Menkes kinky-hair syndrome|Cutis laxa, X-linked|History of neurodevelopmental disorder|Menkes kinky-hair syndrome|Ehlers-Danlos syndrome
  • rs150526992Conflicting interpretationssingle nucleotide variantMenkes kinky-hair syndrome|Cutis laxa, X-linked|X-linked distal spinal muscular atrophy type 3|See cases
  • rs267606673Conflicting interpretationssingle nucleotide variantX-linked distal spinal muscular atrophy type 3|Charcot-Marie-Tooth disease|Menkes kinky-hair syndrome
  • rs72554638Conflicting interpretationssingle nucleotide variantX-linked distal spinal muscular atrophy type 3|Cutis laxa, X-linked|Menkes kinky-hair syndrome|Menkes kinky-hair syndrome
  • rs72554639Likely pathogenicsingle nucleotide variantMenkes kinky-hair syndrome
  • rs151340631Pathogenicsingle nucleotide variantCutis laxa, X-linked|Menkes kinky-hair syndrome
  • rs151340632Pathogenicsingle nucleotide variantCutis laxa, X-linked|Menkes kinky-hair syndrome
  • rs151340633Pathogenicsingle nucleotide variantMenkes kinky-hair syndrome|Cutis laxa, X-linked|Menkes kinky-hair syndrome|X-linked distal spinal muscular atrophy type 3
  • rs267606672Pathogenicsingle nucleotide variantX-linked distal spinal muscular atrophy type 3|Charcot-Marie-Tooth disease|X-linked distal spinal muscular atrophy type 3|Menkes kinky-hair syndrome|Cutis laxa, X-linked|Menkes kinky-hair syndrome
  • rs67273048Pathogenicsingle nucleotide variant
  • rs72554636Pathogenicsingle nucleotide variantMenkes kinky-hair syndrome|Menkes kinky-hair syndrome|Cutis laxa, X-linked|X-linked distal spinal muscular atrophy type 3
  • rs72554640Pathogenicsingle nucleotide variantMenkes kinky-hair syndrome|X-linked distal spinal muscular atrophy type 3|Menkes kinky-hair syndrome|Cutis laxa, X-linked
  • rs72554644Pathogenicsingle nucleotide variantMenkes kinky-hair syndrome|Menkes kinky-hair syndrome|Cutis laxa, X-linked|X-linked distal spinal muscular atrophy type 3
  • rs72554645Pathogenicsingle nucleotide variantMenkes kinky-hair syndrome|Menkes kinky-hair syndrome|Cutis laxa, X-linked|X-linked distal spinal muscular atrophy type 3
  • rs72554649Pathogenicsingle nucleotide variantMenkes kinky-hair syndrome|Cutis laxa, X-linked|Menkes kinky-hair syndrome|X-linked distal spinal muscular atrophy type 3
  • rs72554650Pathogenicsingle nucleotide variantMenkes kinky-hair syndrome
  • rs72554652Pathogenicsingle nucleotide variantMenkes kinky-hair syndrome

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.