PSMD13 proteasome 26S subunit, non-ATPase 13
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 22 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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26 |
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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
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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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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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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 | HSPC027 |
SYNONYM | Rpn9 |
SYNONYM | S11 |
SYNONYM | p40.5 |
MIM | 603481 OMIM |
HGNC | HGNC:9558 HGNC |
Ensembl | ENSG00000185627 Ensembl |
AllianceGenome | HGNC:9558 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000431206.6 | hg38 | chr11 | 236,977 | 252,981 | 16,005 |
ENST00000532097.6 | hg38 | chr11 | 236,976 | 252,984 | 16,009 |
ENST00000352303.9 | hg38 | chr11 | 237,026 | 252,953 | 15,928 |
ENST00000532097.6 | hg19 | chr11 | 236,976 | 252,984 | 16,009 |
ENST00000431206.6 | hg19 | chr11 | 236,977 | 252,981 | 16,005 |
ENST00000352303.9 | hg19 | chr11 | 237,026 | 252,953 | 15,928 |
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