EXOSC9 exosome component 9
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 38 |
| Likely pathogenic | 0 | 14 |
| Benign | 0 | 66 |
| Likely benign | 0 | 176 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 244 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
46 |
 |
480 |
 |
6 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | PCH1D |
| SYNONYM | PM/Scl-75 |
| SYNONYM | PMSCL1 |
| SYNONYM | RRP45 |
| SYNONYM | Rrp45p |
| SYNONYM | p5 |
| SYNONYM | p6 |
| MIM | 606180 OMIM |
| HGNC | HGNC:9137 HGNC |
| Ensembl | ENSG00000123737 Ensembl |
| AllianceGenome | HGNC:9137 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000512454.5 | hg38 | chr4 | 121,801,593 | 121,816,911 | 15,319 |
| ENST00000243498.10 | hg38 | chr4 | 121,801,323 | 121,817,021 | 15,699 |
| ENST00000379663.7 | hg38 | chr4 | 121,801,320 | 121,816,909 | 15,590 |
| ENST00000379663.7 | hg19 | chr4 | 122,722,475 | 122,738,064 | 15,590 |
| ENST00000243498.10 | hg19 | chr4 | 122,722,478 | 122,738,176 | 15,699 |
| ENST00000512454.5 | hg19 | chr4 | 122,722,748 | 122,738,066 | 15,319 |
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