RGD:11631022 Rat Genome Database

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Variant: RGD:11631022 -  Homo sapiens

RGD ID: 11631022
RS ID: rs528219097
ClinVar ID: CV345911
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 40,540,413
GRCh38 17 42,388,395
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369513.1:c.-121C>T
NM_001369514.1:c.-121C>T
NM_001369516.1:c.-140C>T
LRG_112t1:c.-140C>T
More...
01/13/2018 2kb upstream variant|5 prime utr variant benign|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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT3
Accession:NM_003150
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_139276
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_213662
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:XM_017024973
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369519
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369517
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369512
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369514
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369518
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369513
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369520
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001369516
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384989
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384992
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384984
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384985
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384987
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384991
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384988
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384993
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384986
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:NM_001384990
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:XM_047436585
Location:5UTRS;EXON

Gene Symbol:STAT3
Accession:XM_047436586
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000366325 CLINVAR
  RCV001636911 CLINVAR
dbSNP (RS) rs528219097 CLINVAR
MedGen C4721531 CLINVAR
  CN517202 CLINVAR
NCBI Gene STAT3 CLINVAR
OMIM 102582 CLINVAR
  147060 CLINVAR