RGD:15132052 Rat Genome Database

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Variant: RGD:15132052 -  Homo sapiens

RGD ID: 15132052
RS ID: rs367840028
ClinVar ID: CV743858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 191,864,434
GRCh38 2 190,999,708
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001384883.1:c.463-11G>T
NM_001384880.1:c.463-4G>T
NM_001384882.1:c.463-4G>T
NM_001384885.1:c.463-4G>T
More... 		01/16/2019 intron variant likely benign Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Candidiasis, familial, 7; Immunodeficiency 31a; IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT; IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE; Immunodeficiency 31C; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mycobacterial and viral infections, susceptibility to, autosomal recessive; STAT1 DEFICIENCY, AUTOSOMAL DOMINANT; STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT1
Accession:NM_001384888
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384889
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384886
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384881
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384882
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384891
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384884
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384880
Location:INTRON

Gene Symbol:STAT1
Accession:NM_139266
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384883
Location:INTRON

Gene Symbol:STAT1
Accession:NM_007315
Location:INTRON

Gene Symbol:STAT1
Accession:XM_006712718
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384890
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384885
Location:INTRON

Gene Symbol:STAT1
Accession:NM_001384887
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000897887 CLINVAR
dbSNP (RS) rs367840028 CLINVAR
MedGen C3151088 CLINVAR
NCBI Gene STAT1 CLINVAR
OMIM 600555 CLINVAR
  613796 CLINVAR
  614162 CLINVAR
  614892 CLINVAR