IFNGR1 interferon gamma receptor 1

Information
Symbol
IFNGR1
Type
protein-coding
Description
interferon gamma receptor 1
Entrez Gene ID
3459
Genome
hg19
Position
chr6:137,518,622-137,540,522
Genome
hg38
Position
chr6:137,197,485-137,219,385
MIM
107470 OMIM
HGNC
HGNC:5439 HGNC
Ensembl
ENSG00000027697 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 42
Likely pathogenic 0 20
Benign 0 58
Likely benign 0 172
Conflicting classifications of pathogenicity 0 16
not provided 3 22
Uncertain significance 0 388
Ranking
ClinVar
0
0
92
546
22
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CD119
SYNONYM IFNGR
SYNONYM IMD27A
SYNONYM IMD27B
MIM 107470 OMIM
HGNC HGNC:5439 HGNC
Ensembl ENSG00000027697 Ensembl
AllianceGenome HGNC:5439
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000642390.1 hg38 chr6 137,197,497 137,219,064 21,568
ENST00000644894.1 hg38 chr6 137,197,497 137,219,244 21,748
ENST00000414770.6 hg38 chr6 137,197,497 137,219,449 21,953
ENST00000696695.1 hg38 chr6 137,197,485 137,219,412 21,928
ENST00000696694.1 hg38 chr6 137,197,485 137,219,385 21,901
ENST00000696693.1 hg38 chr6 137,197,485 137,218,060 20,576
ENST00000647124.1 hg38 chr6 137,197,497 137,219,028 21,532
ENST00000645753.1 hg38 chr6 137,197,497 137,219,122 21,626
ENST00000646898.1 hg38 chr6 137,197,497 137,219,160 21,664
ENST00000645045.1 hg38 chr6 137,197,485 137,219,313 21,829
ENST00000646036.1 hg38 chr6 137,197,497 137,219,136 21,640
ENST00000458076.6 hg38 chr6 137,197,483 137,219,449 21,967
ENST00000367739.9 hg38 chr6 137,197,485 137,219,385 21,901
ENST00000458076.6 hg19 chr6 137,518,620 137,540,586 21,967
ENST00000645753.1 hg19 chr6 137,518,634 137,540,259 21,626
ENST00000645045.1 hg19 chr6 137,518,622 137,540,450 21,829
ENST00000367739.9 hg19 chr6 137,518,622 137,540,522 21,901
ENST00000414770.6 hg19 chr6 137,518,634 137,540,586 21,953
ENST00000642390.1 hg19 chr6 137,518,634 137,540,201 21,568
ENST00000644894.1 hg19 chr6 137,518,634 137,540,381 21,748
ENST00000647124.1 hg19 chr6 137,518,634 137,540,165 21,532
ENST00000646036.1 hg19 chr6 137,518,634 137,540,273 21,640
ENST00000646898.1 hg19 chr6 137,518,634 137,540,297 21,664
ENST00000696693.1 hg19 chr6 137,518,622 137,539,197 20,576
ENST00000696694.1 hg19 chr6 137,518,622 137,540,522 21,901
ENST00000696695.1 hg19 chr6 137,518,622 137,540,549 21,928
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