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, Helicobacter pylori infection, susceptibility to, Hepatitis b virus, susceptibility to, Mycobacterium tuberculosis, susceptibility to
Citation reference(s) -
Curators (1) Esther van de Vosse
Total number of public variants reported 414
Unique public DNA variants reported 336
Individuals with public variants 145
Hidden variants 0
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 June 24, 2020
Version IFNGR1:200624

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 Orphanet
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))
Helicobacter pylori infection, susceptibility to
Hepatitis b virus, susceptibility to
Mycobacterium tuberculosis, susceptibility to
GeneCards IFNGR1
GeneTests IFNGR1

Active transcripts




NCBI ID     

NCBI Protein ID     

00009843 6 interferon gamma receptor 1 NM_000416.2 NP_000407.1 414

Copyright & disclaimer
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