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Gene entry

STAT3

signal transducer and activator of transcription 3

Chromosome
17
Cytoband
17q21.2
Variants (rsID)
25

STAT3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.2). Its official name is “signal transducer and activator of transcription 3”. The reference table lists 25 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs1053004Benignsingle nucleotide variantHyper-IgE recurrent infection syndrome 1
  • rs1053005Benignsingle nucleotide variantHyper-IgE recurrent infection syndrome 1
  • rs140604473Conflicting interpretationssingle nucleotide variantSTAT3 gain of function|Hyper-IgE recurrent infection syndrome 1
  • rs193922716Likely pathogenicsingle nucleotide variantHyper-IgE recurrent infection syndrome 1|Hyper-IgE recurrent infection syndrome 1|STAT3 gain of function
  • rs193922719Likely pathogenicsingle nucleotide variantHyper-IgE recurrent infection syndrome 1
  • rs193922720Likely pathogenicsingle nucleotide variantHyper-IgE recurrent infection syndrome 1
  • rs193922722Likely pathogenicsingle nucleotide variantHyper-IgE recurrent infection syndrome 1
  • rs113994135Pathogenicsingle nucleotide variantHyper-IgE recurrent infection syndrome 1|Hyper-IgE recurrent infection syndrome 1|STAT3 gain of function
  • rs113994138PathogenicMicrosatelliteHyper-IgE recurrent infection syndrome 1|STAT3 gain of function|Hyper-IgE recurrent infection syndrome 1
  • rs113994139Pathogenicsingle nucleotide variantHyper-IgE recurrent infection syndrome 1|Hyper-IgE syndrome|Hyper-IgE recurrent infection syndrome 1|STAT3 gain of function
  • rs193922717Pathogenicsingle nucleotide variantHyper-IgE recurrent infection syndrome 1|STAT3-related early-onset multisystem autoimmune disease
  • rs193922721Pathogenicsingle nucleotide variantHyper-IgE recurrent infection syndrome 1|Hyper-IgE recurrent infection syndrome 1|STAT3 gain of function
  • rs869312887Pathogenicsingle nucleotide variantSTAT3-related early-onset multisystem autoimmune disease
  • rs869312889Pathogenicsingle nucleotide variantSTAT3-related early-onset multisystem autoimmune disease
  • rs869312892Pathogenicsingle nucleotide variantSTAT3-related early-onset multisystem autoimmune disease|STAT3 gain of function|Hyper-IgE recurrent infection syndrome 1
  • rs869312894Pathogenicsingle nucleotide variantSTAT3-related early-onset multisystem autoimmune disease

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.