EXOSC5 exosome component 5
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 2 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 46 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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8 |
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50 |
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4 |
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
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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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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 |
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Target data | : |
MGeND data only
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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 | CABAC |
SYNONYM | RRP41B |
SYNONYM | RRP46 |
SYNONYM | Rrp46p |
SYNONYM | hRrp46p |
SYNONYM | p12B |
MIM | 606492 OMIM |
HGNC | HGNC:24662 HGNC |
Ensembl | ENSG00000077348 Ensembl |
AllianceGenome | HGNC:24662 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000602129.2 | hg38 | chr19 | 41,386,376 | 41,397,356 | 10,981 |
ENST00000221233.9 | hg38 | chr19 | 41,386,374 | 41,397,359 | 10,986 |
ENST00000593771.2 | hg38 | chr19 | 41,386,371 | 41,397,350 | 10,980 |
ENST00000596905.1 | hg38 | chr19 | 41,386,415 | 41,397,342 | 10,928 |
ENST00000593771.2 | hg19 | chr19 | 41,892,276 | 41,903,255 | 10,980 |
ENST00000221233.9 | hg19 | chr19 | 41,892,279 | 41,903,264 | 10,986 |
ENST00000602129.2 | hg19 | chr19 | 41,892,281 | 41,903,261 | 10,981 |
ENST00000596905.1 | hg19 | chr19 | 41,892,320 | 41,903,247 | 10,928 |
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