AVEN apoptosis and caspase activation inhibitor
Information
- Symbol
- AVEN
- Type
- protein-coding
- Description
- apoptosis and caspase activation inhibitor
- Entrez Gene ID
- 57099
- Genome
- hg19
- Position
- chr15:34,158,428-34,331,405
- Genome
- hg38
- Position
- chr15:33,866,227-34,039,204
- MIM
- 605265 OMIM
- HGNC
- HGNC:13509 HGNC
- Ensembl
- ENSG00000169857 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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62 |
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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 |
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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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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 | PDCD12 |
MIM | 605265 OMIM |
HGNC | HGNC:13509 HGNC |
Ensembl | ENSG00000169857 Ensembl |
AllianceGenome | HGNC:13509 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000306730.8 | hg38 | chr15 | 33,866,227 | 34,039,204 | 172,978 |
ENST00000306730.8 | hg19 | chr15 | 34,158,428 | 34,331,405 | 172,978 |
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