Variant (rsID / SNP)

rs1053005

rs1053005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT3. Location: chromosome 17, position 40,465,910. Clinical significance in the table: Benign.

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Reference-table entries

STAT3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:40465910
Cytoband: 17q21.2
HGVS: NM_139276.3(STAT3):c.*1853A>G
Allele change: Silent

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.