POLR2E RNA polymerase II, I and III subunit E
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 2 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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22 |
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2 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | RPABC1 |
SYNONYM | RPB5 |
SYNONYM | XAP4 |
SYNONYM | hRPB25 |
SYNONYM | hsRPB5 |
MIM | 180664 OMIM |
HGNC | HGNC:9192 HGNC |
Ensembl | ENSG00000099817 Ensembl |
AllianceGenome | HGNC:9192 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000619917.4 | hg38 | chr19 | 1,088,388 | 1,095,366 | 6,979 |
ENST00000586746.5 | hg38 | chr19 | 1,086,579 | 1,095,354 | 8,776 |
ENST00000612655.4 | hg38 | chr19 | 1,087,645 | 1,095,380 | 7,736 |
ENST00000615234.5 | hg38 | chr19 | 1,086,574 | 1,095,375 | 8,802 |
ENST00000615234.5 | hg19 | chr19 | 1,086,573 | 1,095,374 | 8,802 |
ENST00000586746.5 | hg19 | chr19 | 1,086,578 | 1,095,353 | 8,776 |
ENST00000612655.4 | hg19 | chr19 | 1,087,644 | 1,095,379 | 7,736 |
ENST00000619917.4 | hg19 | chr19 | 1,088,387 | 1,095,365 | 6,979 |
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