POLR1B RNA polymerase I subunit B

Information
Symbol
POLR1B
Type
protein-coding
Description
RNA polymerase I subunit B
Entrez Gene ID
84172
Genome
hg19
Position
chr2:113,299,613-113,334,727
Genome
hg38
Position
chr2:112,542,036-112,577,150
MIM
602000 OMIM
HGNC
HGNC:20454 HGNC
Ensembl
ENSG00000125630 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 80
Likely benign 0 14
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 102
Ranking
ClinVar
0
0
6
190
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
[No Data.]
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 A135
SYNONYM RPA135
SYNONYM RPA2
SYNONYM Rpo1-2
SYNONYM TCS4
MIM 602000 OMIM
HGNC HGNC:20454 HGNC
Ensembl ENSG00000125630 Ensembl
AllianceGenome HGNC:20454
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409894.7 hg38 chr2 112,542,226 112,577,058 34,833
ENST00000417433.6 hg38 chr2 112,542,465 112,576,295 33,831
ENST00000537335.5 hg38 chr2 112,541,915 112,577,150 35,236
ENST00000263331.10 hg38 chr2 112,542,465 112,579,818 37,354
ENST00000541869.5 hg38 chr2 112,542,036 112,577,150 35,115
ENST00000263331.10 hg19 chr2 113,300,042 113,337,395 37,354
ENST00000409894.7 hg19 chr2 113,299,803 113,334,635 34,833
ENST00000417433.6 hg19 chr2 113,300,042 113,333,872 33,831
ENST00000537335.5 hg19 chr2 113,299,492 113,334,727 35,236
ENST00000541869.5 hg19 chr2 113,299,613 113,334,727 35,115
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