RFX5 regulatory factor X5

Information
Symbol
RFX5
Type
protein-coding
Description
regulatory factor X5
Entrez Gene ID
5993
Genome
hg19
Position
chr1:151,313,116-151,319,727
Genome
hg38
Position
chr1:151,340,640-151,347,251
MIM
601863 OMIM
HGNC
HGNC:9986 HGNC
Ensembl
ENSG00000143390 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 50
Likely pathogenic 0 30
Benign 12 34
Likely benign 0 178
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 452
Ranking
ClinVar
0
0
80
654
4
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 MHC2D3
SYNONYM MHC2D5
MIM 601863 OMIM
HGNC HGNC:9986 HGNC
Ensembl ENSG00000143390 Ensembl
AllianceGenome HGNC:9986
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000452671.7 hg38 chr1 151,340,640 151,347,252 6,613
ENST00000290524.8 hg38 chr1 151,340,640 151,347,251 6,612
ENST00000368870.6 hg38 chr1 151,341,829 151,347,326 5,498
ENST00000290524.8 hg19 chr1 151,313,116 151,319,727 6,612
ENST00000368870.6 hg19 chr1 151,314,305 151,319,802 5,498
ENST00000452671.7 hg19 chr1 151,313,116 151,319,728 6,613
Genome browser