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 |
![]() |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|
| 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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