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Gene entry

HECW2

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

Chromosome
2
Cytoband
2q32.3
Variants (rsID)
103

HECW2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q32.3). Its official name is “HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2”. The reference table lists 103 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs878854416Pathogenicsingle nucleotide variantNeurodevelopmental disorder with hypotonia, seizures, and absent language|Inborn genetic diseases
  • rs878854417Pathogenicsingle nucleotide variantNeurodevelopmental disorder with hypotonia, seizures, and absent language|Inborn genetic diseases|HECW2-Related Disorder
  • rs878854422Pathogenicsingle nucleotide variantNeurodevelopmental disorder with hypotonia, seizures, and absent language
  • rs878854424Uncertain significancesingle nucleotide variantNeurodevelopmental disorder with hypotonia, seizures, and absent language
  • rs1531111Not classifiedsynonymous_variant

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.