POLRMT RNA polymerase mitochondrial

Information
Symbol
POLRMT
Type
protein-coding
Description
RNA polymerase mitochondrial
Entrez Gene ID
5442
Genome
hg19
Position
chr19:617,221-633,537
Genome
hg38
Position
chr19:617,221-633,537
MIM
601778 OMIM
HGNC
HGNC:9200 HGNC
Ensembl
ENSG00000099821 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 4
Benign 0 30
Likely benign 0 72
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 270
Ranking
ClinVar
0
0
30
330
18
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 APOLMT
SYNONYM COXPD55
SYNONYM MTRNAP
SYNONYM MTRPOL
SYNONYM h-mtRPOL
MIM 601778 OMIM
HGNC HGNC:9200 HGNC
Ensembl ENSG00000099821 Ensembl
AllianceGenome HGNC:9200
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000588649.7 hg38 chr19 617,221 633,537 16,317
ENST00000588649.7 hg19 chr19 617,221 633,537 16,317
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