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Variant (rsID / SNP)

rs140604473

STAT3

rs140604473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,467,788. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

STAT3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:40467788
Cytoband
17q21.2
HGVS
NM_139276.3(STAT3):c.2288C>T (p.Ser763Leu)
Allele change
Missense_S763L

Associated conditions / phenotypes

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

Public references

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