RGD:28892605 Rat Genome Database

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Variant: RGD:28892605 -  Homo sapiens

RGD ID: 28892605
RS ID: rs1433022831
ClinVar ID: CV883090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 191,833,915
GRCh38 2 190,969,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_111t1:c.*1514A>G
NC_000002.12:g.190969189T>C
NC_000002.11:g.191833915T>C
NM_007315.3:c.*1514A>G
More... 		01/13/2018 3 prime utr variant uncertain significance 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_001384890
Location:3UTRS;EXON

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

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

Gene Symbol:STAT1
Accession:NM_001384883
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

Gene Symbol:STAT1
Accession:NM_139266
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001139830 CLINVAR
dbSNP (RS) rs1433022831 CLINVAR
MedGen C4013950 CLINVAR
NCBI Gene STAT1 CLINVAR
OMIM 600555 CLINVAR
  614892 CLINVAR