RGD:8567803 Rat Genome Database

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Variant: RGD:8567803 -  Homo sapiens

RGD ID: 8567803
RS ID: rs387906593
ClinVar ID: CV38561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNGR1  LOC127407314  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 137,540,463
GRCh38 6 137,219,326
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_66:g.5105T>A
NG_007394.1:g.5105T>A
NC_000006.12:g.137219326A>T
NC_000006.11:g.137540463A>T
More...
05/14/2015 initiatior codon variant|initiator_codon_variant|missense|missense variant pathogenic infancy|neonatal <1 / 1 000 000 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:XM_011535793
Location:5UTRS;EXON

Gene Symbol:IFNGR1
Accession:NM_000416
Location:EXON

Gene Symbol:IFNGR1
Accession:XM_006715470
Location:INTRON

Gene Symbol:IFNGR1
Accession:XM_011535794
Location:INTRON

Gene Symbol:IFNGR1
Accession:NM_001363526
Location:INTRON

Gene Symbol:IFNGR1
Accession:NM_001363527
Location:INTRON

Gene Symbol:IFNGR1
Accession:XM_047418726
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19880857  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022447 CLINVAR
dbSNP (RS) rs387906593 CLINVAR
MedGen C4011949 CLINVAR
NCBI Gene IFNGR1 CLINVAR
OMIM 107470 CLINVAR
  209950 CLINVAR
OMIM Allele 107470.0014 CLINVAR