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Variant (rsID / SNP)

rs193922717

STAT3

rs193922717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,481,466. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

STAT3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:40481466
Cytoband
17q21.2
HGVS
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys)
Allele change
Missense_E415K

Associated conditions / phenotypes

Hyper-IgE recurrent infection syndrome 1|STAT3-related early-onset multisystem autoimmune disease

Public references

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