POLR1A RNA polymerase I subunit A

Information
Symbol
POLR1A
Type
protein-coding
Description
RNA polymerase I subunit A
Entrez Gene ID
25885
Genome
hg19
Position
chr2:86,247,339-86,333,009
Genome
hg38
Position
chr2:86,020,216-86,105,886
MIM
616404 OMIM
HGNC
HGNC:17264 HGNC
Ensembl
ENSG00000068654 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 4
Benign 0 164
Likely benign 0 650
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 802
Ranking
ClinVar
0
0
166
1,436
10
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 A190
SYNONYM AFDCIN
SYNONYM HLD27
SYNONYM RPA1
SYNONYM RPA190
SYNONYM RPA194
SYNONYM RPO1-4
SYNONYM RPO14
MIM 616404 OMIM
HGNC HGNC:17264 HGNC
Ensembl ENSG00000068654 Ensembl
AllianceGenome HGNC:17264
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409681.1 hg38 chr2 86,026,328 86,106,155 79,828
ENST00000263857.11 hg38 chr2 86,020,216 86,105,886 85,671
ENST00000263857.11 hg19 chr2 86,247,339 86,333,009 85,671
ENST00000409681.1 hg19 chr2 86,253,451 86,333,278 79,828
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