POLR3GL RNA polymerase III subunit GL
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 2 |
Likely benign | 0 | 4 |
not provided | 4 | 0 |
Uncertain significance | 0 | 30 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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38 |
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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
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 |
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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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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 | RPC32HOM |
SYNONYM | SOFM |
SYNONYM | flj32422 |
MIM | 617457 OMIM |
HGNC | HGNC:28466 HGNC |
Ensembl | ENSG00000121851 Ensembl |
AllianceGenome | HGNC:28466 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000369313.7 | hg38 | chr1 | 145,964,703 | 145,978,570 | 13,868 |
ENST00000369314.2 | hg38 | chr1 | 145,964,690 | 145,978,848 | 14,159 |
ENST00000369314.2 | hg19 | chr1 | 145,456,236 | 145,470,400 | 14,165 |
ENST00000369313.7 | hg19 | chr1 | 145,456,514 | 145,470,387 | 13,874 |
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