POLR2H RNA polymerase II, I and III subunit H

Information
Symbol
POLR2H
Type
protein-coding
Description
RNA polymerase II, I and III subunit H
Entrez Gene ID
5437
Genome
hg19
Position
chr3:184,081,222-184,086,384
Genome
hg38
Position
chr3:184,363,434-184,368,596
MIM
606023 OMIM
HGNC
HGNC:9195 HGNC
Ensembl
ENSG00000163882 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 1 0
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
6
0
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 RPABC3
SYNONYM RPB17
SYNONYM RPB8
MIM 606023 OMIM
HGNC HGNC:9195 HGNC
Ensembl ENSG00000163882 Ensembl
AllianceGenome HGNC:9195
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000438240.5 hg38 chr3 184,361,789 184,368,550 6,762
ENST00000456318.6 hg38 chr3 184,361,710 184,368,591 6,882
ENST00000443489.5 hg38 chr3 184,363,361 184,368,591 5,231
ENST00000430783.5 hg38 chr3 184,363,002 184,368,593 5,592
ENST00000429568.1 hg38 chr3 184,363,434 184,368,596 5,163
ENST00000452961.5 hg38 chr3 184,363,403 184,368,533 5,131
ENST00000456318.6 hg19 chr3 184,079,498 184,086,379 6,882
ENST00000438240.5 hg19 chr3 184,079,577 184,086,338 6,762
ENST00000430783.5 hg19 chr3 184,080,790 184,086,381 5,592
ENST00000443489.5 hg19 chr3 184,081,149 184,086,379 5,231
ENST00000452961.5 hg19 chr3 184,081,191 184,086,321 5,131
ENST00000429568.1 hg19 chr3 184,081,222 184,086,384 5,163
Genome browser