THOP1 thimet oligopeptidase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 104 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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108 |
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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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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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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 | EP24.15 |
SYNONYM | MEPD_HUMAN |
SYNONYM | MP78 |
SYNONYM | TOP |
MIM | 601117 OMIM |
HGNC | HGNC:11793 HGNC |
Ensembl | ENSG00000172009 Ensembl |
AllianceGenome | HGNC:11793 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000395212.8 | hg38 | chr19 | 2,809,538 | 2,813,598 | 4,061 |
ENST00000586677.5 | hg38 | chr19 | 2,796,007 | 2,813,382 | 17,376 |
ENST00000307741.11 | hg38 | chr19 | 2,785,503 | 2,815,807 | 30,305 |
ENST00000307741.11 | hg19 | chr19 | 2,785,501 | 2,815,805 | 30,305 |
ENST00000586677.5 | hg19 | chr19 | 2,796,005 | 2,813,380 | 17,376 |
ENST00000395212.8 | hg19 | chr19 | 2,809,536 | 2,813,596 | 4,061 |
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