POLR3B RNA polymerase III subunit B

Information
Symbol
POLR3B
Type
protein-coding
Description
RNA polymerase III subunit B
Entrez Gene ID
55703
Genome
hg19
Position
chr12:106,751,526-106,903,976
Genome
hg38
Position
chr12:106,357,748-106,510,198
MIM
614366 OMIM
HGNC
HGNC:30348 HGNC
Ensembl
ENSG00000013503 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 66
Likely pathogenic 3 68
Benign 0 162
Likely benign 0 278
association 0 6
Conflicting classifications of pathogenicity 0 56
not provided 0 38
Uncertain significance 0 418
Ranking
ClinVar
0
0
124
792
30
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 C128
SYNONYM CMT1I
SYNONYM HLD8
SYNONYM INMAP
SYNONYM RPC2
MIM 614366 OMIM
HGNC HGNC:30348 HGNC
Ensembl ENSG00000013503 Ensembl
AllianceGenome HGNC:30348
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000228347.9 hg38 chr12 106,357,748 106,510,198 152,451
ENST00000539066.5 hg38 chr12 106,358,082 106,510,196 152,115
ENST00000228347.9 hg19 chr12 106,751,526 106,903,976 152,451
ENST00000539066.5 hg19 chr12 106,751,860 106,903,974 152,115
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