PSMB6 proteasome 20S subunit beta 6
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 6 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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24 |
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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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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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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 | DELTA |
SYNONYM | LMPY |
MIM | 600307 OMIM |
HGNC | HGNC:9543 HGNC |
Ensembl | ENSG00000142507 Ensembl |
AllianceGenome | HGNC:9543 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000270586.8 | hg38 | chr17 | 4,796,164 | 4,798,495 | 2,332 |
ENST00000614486.4 | hg38 | chr17 | 4,796,144 | 4,798,502 | 2,359 |
ENST00000614486.4 | hg19 | chr17 | 4,699,439 | 4,701,797 | 2,359 |
ENST00000270586.8 | hg19 | chr17 | 4,699,459 | 4,701,790 | 2,332 |
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