PSMA7 proteasome 20S subunit alpha 7
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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12 |
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | C6 |
| SYNONYM | HEL-S-276 |
| SYNONYM | HSPC |
| SYNONYM | RC6-1 |
| SYNONYM | XAPC7 |
| MIM | 606607 OMIM |
| HGNC | HGNC:9536 HGNC |
| Ensembl | ENSG00000101182 Ensembl |
| AllianceGenome | HGNC:9536 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000370858.3 | hg38 | chr20 | 62,139,331 | 62,143,430 | 4,100 |
| ENST00000370861.1 | hg38 | chr20 | 62,136,857 | 62,142,596 | 5,740 |
| ENST00000370873.9 | hg38 | chr20 | 62,136,733 | 62,143,394 | 6,662 |
| ENST00000370873.9 | hg19 | chr20 | 60,711,789 | 60,718,450 | 6,662 |
| ENST00000370861.1 | hg19 | chr20 | 60,711,913 | 60,717,652 | 5,740 |
| ENST00000370858.3 | hg19 | chr20 | 60,714,387 | 60,718,486 | 4,100 |
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