PSMA6 proteasome 20S subunit alpha 6
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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20 |
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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
[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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| Filtering | : |
| 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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| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | IOTA |
| SYNONYM | PROS27 |
| SYNONYM | p27K |
| MIM | 602855 OMIM |
| HGNC | HGNC:9535 HGNC |
| Ensembl | ENSG00000100902 Ensembl |
| AllianceGenome | HGNC:9535 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000556506.1 | hg38 | chr14 | 35,292,473 | 35,317,419 | 24,947 |
| ENST00000553809.5 | hg38 | chr14 | 35,292,398 | 35,317,347 | 24,950 |
| ENST00000261479.9 | hg38 | chr14 | 35,292,382 | 35,317,493 | 25,112 |
| ENST00000622405.4 | hg38 | chr14 | 35,292,317 | 35,317,478 | 25,162 |
| ENST00000555764.5 | hg38 | chr14 | 35,292,451 | 35,317,493 | 25,043 |
| ENST00000627895.2 | hg38 | chr14 | 35,292,317 | 35,310,287 | 17,971 |
| ENST00000540871.5 | hg38 | chr14 | 35,278,633 | 35,317,467 | 38,835 |
| ENST00000628955.1 | hg38 | chr14 | 35,292,317 | 35,293,080 | 764 |
| ENST00000540871.5 | hg19 | chr14 | 35,747,839 | 35,786,673 | 38,835 |
| ENST00000261479.9 | hg19 | chr14 | 35,761,588 | 35,786,699 | 25,112 |
| ENST00000553809.5 | hg19 | chr14 | 35,761,604 | 35,786,553 | 24,950 |
| ENST00000622405.4 | hg19 | chr14 | 35,761,523 | 35,786,684 | 25,162 |
| ENST00000627895.2 | hg19 | chr14 | 35,761,523 | 35,779,493 | 17,971 |
| ENST00000555764.5 | hg19 | chr14 | 35,761,657 | 35,786,699 | 25,043 |
| ENST00000556506.1 | hg19 | chr14 | 35,761,679 | 35,786,625 | 24,947 |
| ENST00000628955.1 | hg19 | chr14 | 35,761,523 | 35,762,286 | 764 |
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