RGD:13497070 Rat Genome Database

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Variant: RGD:13497070 -  Homo sapiens

RGD ID: 13497070
RS ID: rs2066815
ClinVar ID: CV463221
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 56,743,044
GRCh38 12 56,349,260
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.56349260G>A
NC_000012.11:g.56743044G>A
NP_005410.1:p.Thr448Met
NG_046314.1:g.15994C>T
More... 		07/05/2017 missense variant benign AllHighlyPenetrant; Immunodeficiency 44
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT2
Accession:XM_047429472
Location:3UTRS;EXON

Gene Symbol:STAT2
Accession:XM_047429471
Location:3UTRS;INTRON

Gene Symbol:STAT2
Accession:NM_001385113
Location:EXON

Gene Symbol:STAT2
Accession:NM_005419
Location:EXON

Gene Symbol:STAT2
Accession:XM_047429468
Location:EXON

Gene Symbol:STAT2
Accession:XM_047429469
Location:EXON

Gene Symbol:STAT2
Accession:NM_001385115
Location:EXON

Gene Symbol:STAT2
Accession:NM_001385110
Location:EXON

Gene Symbol:STAT2
Accession:NM_198332
Location:EXON

Gene Symbol:STAT2
Accession:XM_011538698
Location:EXON

Gene Symbol:STAT2
Accession:XM_011538697
Location:EXON

Gene Symbol:STAT2
Accession:NM_001385114
Location:EXON

Gene Symbol:STAT2
Accession:XM_011538699
Location:EXON

Gene Symbol:STAT2
Accession:XM_047429470
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385111
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000560792 CLINVAR
  RCV003488691 CLINVAR
dbSNP (RS) rs2066815 CLINVAR
MedGen C4225260 CLINVAR
  CN169374 CLINVAR
NCBI Gene STAT2 CLINVAR
OMIM 600556 CLINVAR
  616636 CLINVAR