Variant (rsID / SNP)

rs869312892

rs869312892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,468,917. 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: 17:40468917
Cytoband: 17q21.2
HGVS: NM_139276.3(STAT3):c.2147C>T (p.Thr716Met)
Allele change: Missense_T716M

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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