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Gene entry

HUWE1

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

Chromosome
X
Cytoband
Xp11.22
Variants (rsID)
18

HUWE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.22). Its official name is “HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs6638360Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, X-linked syndromic, Turner type
  • rs145758265Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder
  • rs121918526Likely pathogenicsingle nucleotide variantIntellectual disability, X-linked syndromic, Turner type
  • rs886041876Pathogenicsingle nucleotide variantIntellectual disability, X-linked syndromic, Turner type|Intellectual disability|Neurodevelopmental delay

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.