RGD:28908673 Rat Genome Database

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Variant: RGD:28908673 -  Homo sapiens

RGD ID: 28908673
RS ID: rs1321545484
ClinVar ID: CV877509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 40,466,752
GRCh38 17 42,314,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003150.4:c.*1011A>G
NM_139276.3:c.*1011A>G
NM_001369517.1:c.*1105A>G
NM_001369518.1:c.*1105A>G
More... 		01/13/2018 3 prime utr variant uncertain significance 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT3
Accession:NM_001369519
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384989
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384986
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_003150
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384984
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369512
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384990
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369517
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369514
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384992
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369513
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369516
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384988
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_139276
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384987
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384991
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369518
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:XM_047436586
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384985
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384993
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_213662
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369520
Location:3UTRS;EXON

Gene Symbol:STAT3
Accession:XM_047436585
Location:INTRON

Gene Symbol:STAT3
Accession:XM_017024973
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001128304 CLINVAR
dbSNP (RS) rs1321545484 CLINVAR
MedGen C4721531 CLINVAR
NCBI Gene STAT3 CLINVAR
OMIM 102582 CLINVAR
  147060 CLINVAR