The IFNGR1 gene homepage

General information
Gene symbol IFNGR1
Gene name interferon gamma receptor 1
Chromosome 6
Chromosomal band q23-q24
Imprinted Unknown
Genomic reference LRG_66
Transcript reference NM_000416.2
Associated with diseases IMD-27A, IMD-27B, virus, Hepatitis B, Helicobacter pylori infection, susceptibility to, Mycobacterium tuberculosis, susceptibility to
Citation reference(s) -
Curators (1) Esther van de Vosse
Total number of public variants reported 439
Unique public DNA variants reported 343
Individuals with public variants 157
Hidden variants 3
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated September 17, 2021
Version IFNGR1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/IFNGR1
External URL IFNGR1base: Mutation registry for IFN?1-receptor deficiency
HGNC 5439
Entrez Gene 3459
PubMed articles IFNGR1
OMIM - Gene 107470
OMIM - Diseases IMD-27A (immunodeficiency, type 27A, mycobacteriosis, AR (IMD-27A))
IMD-27B (immunodeficiency, type 27B, mycobacteriosis, autosomal dominant (IMD-27B))
virus, Hepatitis B (virus, Hepatitis B, susceptibility to)
Helicobacter pylori infection, susceptibility to
Mycobacterium tuberculosis, susceptibility to
HGMD IFNGR1
GeneCards IFNGR1
GeneTests IFNGR1
Orphanet IFNGR1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009843 6 interferon gamma receptor 1 NM_000416.2 NP_000407.1 439


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