RGD:28889981 Rat Genome Database

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Variant: RGD:28889981 -  Homo sapiens

RGD ID: 28889981
RS ID: rs1779791941
ClinVar ID: CV895477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNGR1  LOC127407314  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 137,540,516
GRCh38 6 137,219,379
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007394.1:g.5052G>T
LRG_66:g.5052G>T
LRG_66t1:c.-52G>T
NM_000416.3:c.-52G>T
More... 		01/13/2018 5 prime utr variant uncertain significance IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE; IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFNGR1
Accession:NM_000416
Location:5UTRS;EXON

Gene Symbol:IFNGR1
Accession:XM_011535793
Location:5UTRS;EXON

Gene Symbol:IFNGR1
Accession:XM_011535794
Location:INTRON

Gene Symbol:IFNGR1
Accession:NM_001363527
Location:INTRON

Gene Symbol:IFNGR1
Accession:NM_001363526
Location:INTRON

Gene Symbol:IFNGR1
Accession:XM_006715470
Location:INTRON

Gene Symbol:IFNGR1
Accession:XM_047418726
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001152284 CLINVAR
dbSNP (RS) rs1779791941 CLINVAR
MedGen C4011949 CLINVAR
NCBI Gene IFNGR1 CLINVAR
OMIM 107470 CLINVAR
  209950 CLINVAR