Variant (rsID / SNP)

rs193922720

rs193922720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,475,130. 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: 17:40475130
Cytoband: 17q21.2
HGVS: NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys)
Allele change: Missense_E594K

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.