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Variant (rsID / SNP)

rs869312889

STAT3

rs869312889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,474,413. 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
17:40474413
Cytoband
17q21.2
HGVS
NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile)
Allele change
Missense_T663I

Associated conditions / phenotypes

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.