Variant (rsID / SNP)

rs869312894

rs869312894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,469,237. 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: 17:40469237
Cytoband: 17q21.2
HGVS: NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr)
Allele change: Missense_A703T

Associated conditions / phenotypes

STAT3-related early-onset multisystem autoimmune disease

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.