CASP3 caspase 3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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26 |
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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
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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| Filtering | : |
| 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 | CPP32 |
| SYNONYM | CPP32B |
| SYNONYM | SCA-1 |
| MIM | 600636 OMIM |
| HGNC | HGNC:1504 HGNC |
| Ensembl | ENSG00000164305 Ensembl |
| AllianceGenome | HGNC:1504 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000523916.5 | hg38 | chr4 | 184,627,696 | 184,649,509 | 21,814 |
| ENST00000393585.6 | hg38 | chr4 | 184,627,696 | 184,648,592 | 20,897 |
| ENST00000393588.8 | hg38 | chr4 | 184,629,384 | 184,649,455 | 20,072 |
| ENST00000308394.9 | hg38 | chr4 | 184,627,696 | 184,649,447 | 21,752 |
| ENST00000517513.5 | hg38 | chr4 | 184,629,256 | 184,649,447 | 20,192 |
| ENST00000700100.1 | hg38 | chr4 | 184,627,698 | 184,648,879 | 21,182 |
| ENST00000700101.1 | hg38 | chr4 | 184,627,698 | 184,650,062 | 22,365 |
| ENST00000393585.6 | hg19 | chr4 | 185,548,850 | 185,569,746 | 20,897 |
| ENST00000308394.9 | hg19 | chr4 | 185,548,850 | 185,570,601 | 21,752 |
| ENST00000523916.5 | hg19 | chr4 | 185,548,850 | 185,570,663 | 21,814 |
| ENST00000700100.1 | hg19 | chr4 | 185,548,852 | 185,570,033 | 21,182 |
| ENST00000700101.1 | hg19 | chr4 | 185,548,852 | 185,571,216 | 22,365 |
| ENST00000517513.5 | hg19 | chr4 | 185,550,410 | 185,570,601 | 20,192 |
| ENST00000393588.8 | hg19 | chr4 | 185,550,538 | 185,570,609 | 20,072 |
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