RGD:11593267 Rat Genome Database

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Variant: RGD:11593267 -  Homo sapiens

RGD ID: 11593267
RS ID: rs41476445
ClinVar ID: CV286708
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 191,834,894
GRCh38 2 190,970,168
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007315.3:c.*535C>T
LRG_111t1:c.*535C>T
LRG_111:g.49083C>T
NG_008294.1:g.49083C>T
More... 		01/12/2018 3 prime utr variant benign|likely benign Immunodeficiency 31a; IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT; STAT1 DEFICIENCY, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT1
Accession:NM_001384883
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384887
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:XM_006712718
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384888
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384889
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384881
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384891
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384884
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384880
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384882
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384886
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384885
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_007315
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_001384890
Location:3UTRS;EXON

Gene Symbol:STAT1
Accession:NM_139266
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000347228 CLINVAR
dbSNP (RS) rs41476445 CLINVAR
MedGen C4013950 CLINVAR
NCBI Gene STAT1 CLINVAR
OMIM 600555 CLINVAR
  614892 CLINVAR