IFNAR1 interferon alpha and beta receptor subunit 1

Information
Symbol
IFNAR1
Type
protein-coding
Description
interferon alpha and beta receptor subunit 1
Entrez Gene ID
3454
Genome
hg19
Position
chr21:34,697,275-34,732,170
Genome
hg38
Position
chr21:33,324,970-33,359,864
MIM
107450 OMIM
HGNC
HGNC:5432 HGNC
Ensembl
ENSG00000142166 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 16
Benign 0 40
Likely benign 0 178
Conflicting classifications of pathogenicity 0 14
Likely risk allele 0 4
risk factor 0 8
Uncertain significance 0 254
Ranking
ClinVar
0
0
32
478
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 AVP
SYNONYM IFN-alpha-REC
SYNONYM IFNAR
SYNONYM IFNBR
SYNONYM IFRC
SYNONYM IMD106
MIM 107450 OMIM
HGNC HGNC:5432 HGNC
Ensembl ENSG00000142166 Ensembl
AllianceGenome HGNC:5432
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000700084.1 hg38 chr21 33,324,389 33,359,843 35,455
ENST00000703561.1 hg38 chr21 33,324,935 33,359,805 34,871
ENST00000700080.1 hg38 chr21 33,324,387 33,359,730 35,344
ENST00000652601.1 hg38 chr21 33,324,975 33,349,077 24,103
ENST00000270139.8 hg38 chr21 33,324,970 33,359,864 34,895
ENST00000442071.3 hg38 chr21 33,324,942 33,359,730 34,789
ENST00000652450.2 hg38 chr21 33,324,389 33,359,730 35,342
ENST00000652513.2 hg38 chr21 33,324,935 33,349,077 24,143
ENST00000703557.1 hg38 chr21 33,324,929 33,359,137 34,209
ENST00000652450.2 hg19 chr21 34,696,694 34,732,036 35,343
ENST00000442071.3 hg19 chr21 34,697,247 34,732,036 34,790
ENST00000270139.8 hg19 chr21 34,697,275 34,732,170 34,896
ENST00000700080.1 hg19 chr21 34,696,692 34,732,036 35,345
ENST00000652513.2 hg19 chr21 34,697,240 34,721,383 24,144
ENST00000652601.1 hg19 chr21 34,697,280 34,721,383 24,104
ENST00000700084.1 hg19 chr21 34,696,694 34,732,149 35,456
ENST00000703561.1 hg19 chr21 34,697,240 34,732,111 34,872
ENST00000703557.1 hg19 chr21 34,697,234 34,731,443 34,210
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