RGD:152156094 Rat Genome Database

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Variant: RGD:152156094 -  Homo sapiens

RGD ID: 152156094
RS ID: rs2144896877
ClinVar ID: CV1561105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 40,491,444
GRCh38 17 42,339,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001384985.1:c.295-17G>A
NM_001369512.1:c.373-17G>A
NM_001369513.1:c.373-17G>A
NM_001369514.1:c.373-17G>A
More... 		10/12/2021 intron variant likely benign AD hyperimmunoglobulin E syndrome; Autosomal Dominant Hyper IgE Syndrome; HIES autosomal dominant; Hyper Ig E syndrome, autosomal dominant; Hyper-IgE recurrent infection syndrome 1; HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant; Job syndrome; Job's Syndrome; STAT3 gain of function
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT3
Accession:XM_047436586
Location:INTRON

Gene Symbol:STAT3
Accession:XM_047436585
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001369519
Location:INTRON

Gene Symbol:STAT3
Accession:XM_017024973
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001369512
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384989
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001369514
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001369513
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384985
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384991
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384988
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001369517
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001369520
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384992
Location:INTRON

Gene Symbol:STAT3
Accession:NM_003150
Location:INTRON

Gene Symbol:STAT3
Accession:NM_139276
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384984
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001369518
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001369516
Location:INTRON

Gene Symbol:STAT3
Accession:NM_213662
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384987
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384993
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384986
Location:INTRON

Gene Symbol:STAT3
Accession:NM_001384990
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002102968 CLINVAR
dbSNP (RS) rs2144896877 CLINVAR
MedGen C4721531 CLINVAR
NCBI Gene STAT3 CLINVAR
OMIM 102582 CLINVAR
  147060 CLINVAR