IFIH1 interferon induced with helicase C domain 1

Information
Symbol
IFIH1
Type
protein-coding
Description
interferon induced with helicase C domain 1
Entrez Gene ID
64135
Genome
hg19
Position
chr2:163,123,584-163,175,194
Genome
hg38
Position
chr2:162,267,074-162,318,684
MIM
606951 OMIM
HGNC
HGNC:18873 HGNC
Ensembl
ENSG00000115267 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 60
Likely pathogenic 0 28
Benign 0 172
Likely benign 0 964
Conflicting classifications of pathogenicity 0 130
Uncertain significance 0 1,448
Ranking
ClinVar
0
0
330
2,260
48
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 AGS7
SYNONYM Hlcd
SYNONYM IDDM19
SYNONYM IMD95
SYNONYM MDA-5
SYNONYM MDA5
SYNONYM RLR-2
SYNONYM SGMRT1
MIM 606951 OMIM
HGNC HGNC:18873 HGNC
Ensembl ENSG00000115267 Ensembl
AllianceGenome HGNC:18873
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000648433.1 hg38 chr2 162,267,095 162,318,475 51,381
ENST00000649979.2 hg38 chr2 162,267,074 162,318,684 51,611
ENST00000679938.1 hg38 chr2 162,267,088 162,318,228 51,141
ENST00000421365.2 hg38 chr2 162,310,147 162,318,684 8,538
ENST00000649979.2 hg19 chr2 163,123,584 163,175,194 51,611
ENST00000679938.1 hg19 chr2 163,123,598 163,174,738 51,141
ENST00000648433.1 hg19 chr2 163,123,605 163,174,985 51,381
ENST00000421365.2 hg19 chr2 163,166,657 163,175,194 8,538
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