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 IMD27A, IMD27B, virus, Hepatitis B, Helicobacter pylori infection, susceptibility to, Mycobacterium tuberculosis, susceptibility to
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 443
Unique public DNA variants reported 344
Individuals with public variants 157
Hidden variants 5
Download all this gene's data Download all data
Notes We gratefully acknowledge the efforts of Esther van de Vosse, curating this database until 2020. 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 November 01, 2022
Version IFNGR1:221101

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 https://www.LOVD.nl/IFNGR1
External URL IFNGR1base
HGNC 5439
Entrez Gene 3459
PubMed articles IFNGR1
OMIM - Gene 107470
OMIM - Diseases IMD27A (immunodeficiency, type 27A, mycobacteriosis, AR (IMD-27A))
IMD27B (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_000407.1 443


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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