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Variant (rsID / SNP)

rs113994139

STAT3

rs113994139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,474,492. Clinical significance in the table: Pathogenic.

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Reference-table entries

STAT3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:40474492
Cytoband
17q21.2
HGVS
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)
Allele change
Missense_V637M

Associated conditions / phenotypes

Hyper-IgE recurrent infection syndrome 1|Hyper-IgE syndrome|Hyper-IgE recurrent infection syndrome 1|STAT3 gain of function

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.