Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs113994135

STAT3

rs113994135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,481,661. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

STAT3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:40481661
Cytoband
17q21.2
HGVS
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)
Allele change
Missense_R382W

Associated conditions / phenotypes

Hyper-IgE recurrent infection syndrome 1|Hyper-IgE recurrent infection syndrome 1|STAT3 gain of function

Public references

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