RGD:13624928 Rat Genome Database

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Variant: RGD:13624928 -  Homo sapiens

RGD ID: 13624928
RS ID: rs1555170176
ClinVar ID: CV527828
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 56,742,529
GRCh38 12 56,348,745
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005419.4:c.1629+7C>T
NM_005419.3:c.1629+7C>T
NG_046314.1:g.16509C>T
NC_000012.12:g.56348745G>A
More... 		08/16/2017 intron variant likely benign Immunodeficiency 44
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT2
Accession:XM_047429470
Location:3UTRS;INTRON

Gene Symbol:STAT2
Accession:XM_011538699
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385115
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385113
Location:INTRON

Gene Symbol:STAT2
Accession:NM_198332
Location:INTRON

Gene Symbol:STAT2
Accession:XM_047429472
Location:INTRON

Gene Symbol:STAT2
Accession:XM_011538697
Location:INTRON

Gene Symbol:STAT2
Accession:XM_011538698
Location:INTRON

Gene Symbol:STAT2
Accession:XM_047429471
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385114
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385110
Location:INTRON

Gene Symbol:STAT2
Accession:NM_005419
Location:INTRON

Gene Symbol:STAT2
Accession:XM_047429468
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385111
Location:INTRON

Gene Symbol:STAT2
Accession:XM_047429469
Location:INTRON

Gene Symbol:STAT2
Accession:XR_245953
Location:INTRON;NON-CODING

Gene Symbol:STAT2
Accession:XR_007063122
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000652759 CLINVAR
dbSNP (RS) rs1555170176 CLINVAR
MedGen C4225260 CLINVAR
NCBI Gene STAT2 CLINVAR
OMIM 600556 CLINVAR
  616636 CLINVAR