CASP10 caspase 10
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Benign | 4 | 144 |
Likely benign | 0 | 252 |
Conflicting classifications of pathogenicity | 0 | 34 |
Uncertain significance | 0 | 578 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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136 |
![]() |
822 |
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10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
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 |
Search Word
Target data | : |
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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 |
---|---|
SYNONYM | ALPS2 |
SYNONYM | FLICE-2 |
SYNONYM | FLICE2 |
SYNONYM | MCH4 |
MIM | 601762 OMIM |
HGNC | HGNC:1500 HGNC |
Ensembl | ENSG00000003400 Ensembl |
AllianceGenome | HGNC:1500 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000448480.1 | hg38 | chr2 | 201,183,195 | 201,229,128 | 45,934 |
ENST00000374650.8 | hg38 | chr2 | 201,182,872 | 201,200,728 | 17,857 |
ENST00000346817.10 | hg38 | chr2 | 201,183,135 | 201,219,705 | 36,571 |
ENST00000313728.12 | hg38 | chr2 | 201,183,127 | 201,217,829 | 34,703 |
ENST00000696199.1 | hg38 | chr2 | 201,183,141 | 201,229,428 | 46,288 |
ENST00000471191.2 | hg38 | chr2 | 201,183,141 | 201,196,110 | 12,970 |
ENST00000286186.11 | hg38 | chr2 | 201,183,141 | 201,221,665 | 38,525 |
ENST00000272879.9 | hg38 | chr2 | 201,183,132 | 201,229,406 | 46,275 |
ENST00000374650.8 | hg19 | chr2 | 202,047,595 | 202,065,451 | 17,857 |
ENST00000313728.12 | hg19 | chr2 | 202,047,850 | 202,082,552 | 34,703 |
ENST00000272879.9 | hg19 | chr2 | 202,047,855 | 202,094,129 | 46,275 |
ENST00000346817.10 | hg19 | chr2 | 202,047,858 | 202,084,428 | 36,571 |
ENST00000471191.2 | hg19 | chr2 | 202,047,864 | 202,060,833 | 12,970 |
ENST00000286186.11 | hg19 | chr2 | 202,047,864 | 202,086,388 | 38,525 |
ENST00000696199.1 | hg19 | chr2 | 202,047,864 | 202,094,151 | 46,288 |
ENST00000448480.1 | hg19 | chr2 | 202,047,918 | 202,093,851 | 45,934 |
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