IRF6 interferon regulatory factor 6

Information
Symbol
IRF6
Type
protein-coding
Description
interferon regulatory factor 6
Entrez Gene ID
3664
Genome
hg19
Position
chr1:209,958,962-209,979,487
Genome
hg38
Position
chr1:209,785,617-209,806,142
MIM
607199 OMIM
HGNC
HGNC:6121 HGNC
Ensembl
ENSG00000117595 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 140
Likely pathogenic 0 58
Benign 6 118
Likely benign 0 50
Conflicting classifications of pathogenicity 0 10
not provided 6 14
Uncertain significance 0 238
Ranking
ClinVar
0
0
64
472
50
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 LPS
SYNONYM OFC6
SYNONYM PIT
SYNONYM PPS
SYNONYM PPS1
SYNONYM VWS
SYNONYM VWS1
MIM 607199 OMIM
HGNC HGNC:6121 HGNC
Ensembl ENSG00000117595 Ensembl
AllianceGenome HGNC:6121
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367021.8 hg38 chr1 209,785,617 209,806,142 20,526
ENST00000542854.5 hg38 chr1 209,785,623 209,806,175 20,553
ENST00000367021.8 hg19 chr1 209,958,962 209,979,487 20,526
ENST00000542854.5 hg19 chr1 209,958,968 209,979,520 20,553
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