POLR3C RNA polymerase III subunit C
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 10 |
not provided | 4 | 0 |
Uncertain significance | 0 | 48 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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60 |
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0 |
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
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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 |
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SYNONYM | C82 |
SYNONYM | RPC3 |
SYNONYM | RPC62 |
MIM | 617454 OMIM |
HGNC | HGNC:30076 HGNC |
Ensembl | ENSG00000186141 Ensembl |
AllianceGenome | HGNC:30076 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000369294.5 | hg38 | chr1 | 145,824,176 | 145,842,493 | 18,318 |
ENST00000334163.4 | hg38 | chr1 | 145,824,200 | 145,844,402 | 20,203 |
ENST00000698756.1 | hg38 | chr1 | 145,824,135 | 145,844,383 | 20,249 |
ENST00000698751.1 | hg38 | chr1 | 145,824,053 | 145,844,383 | 20,331 |
ENST00000698761.1 | hg38 | chr1 | 145,824,196 | 145,842,501 | 18,306 |
ENST00000334163.4 | hg19 | chr1 | 145,590,666 | 145,610,913 | 20,248 |
ENST00000698756.1 | hg19 | chr1 | 145,590,685 | 145,610,978 | 20,294 |
ENST00000698751.1 | hg19 | chr1 | 145,590,685 | 145,611,060 | 20,376 |
ENST00000698761.1 | hg19 | chr1 | 145,592,609 | 145,610,917 | 18,309 |
ENST00000369294.5 | hg19 | chr1 | 145,592,617 | 145,610,937 | 18,321 |
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