DNPEP aspartyl aminopeptidase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 78 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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84 |
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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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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 | ASPEP |
SYNONYM | DAP |
MIM | 611367 OMIM |
HGNC | HGNC:2981 HGNC |
Ensembl | ENSG00000123992 Ensembl |
AllianceGenome | HGNC:2981 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000273075.9 | hg38 | chr2 | 219,372,043 | 219,387,912 | 15,870 |
ENST00000523282.5 | hg38 | chr2 | 219,374,194 | 219,400,007 | 25,814 |
ENST00000520694.6 | hg38 | chr2 | 219,373,527 | 219,387,796 | 14,270 |
ENST00000373972.5 | hg38 | chr2 | 219,374,194 | 219,388,876 | 14,683 |
ENST00000273075.9 | hg19 | chr2 | 220,236,765 | 220,252,634 | 15,870 |
ENST00000373972.5 | hg19 | chr2 | 220,238,916 | 220,253,598 | 14,683 |
ENST00000520694.6 | hg19 | chr2 | 220,238,249 | 220,252,518 | 14,270 |
ENST00000523282.5 | hg19 | chr2 | 220,238,916 | 220,264,729 | 25,814 |
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