Variant (rsID / SNP)

rs193922719

rs193922719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,475,138. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

STAT3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:40475138
Cytoband: 17q21.2
HGVS: NM_139276.3(STAT3):c.1772A>T (p.Lys591Met)
Allele change: Missense_K591M

Associated conditions / phenotypes

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.