CASP1 caspase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 20 |
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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70 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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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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 | ICE |
SYNONYM | IL1BC |
SYNONYM | P45 |
MIM | 147678 OMIM |
HGNC | HGNC:1499 HGNC |
Ensembl | ENSG00000137752 Ensembl |
AllianceGenome | HGNC:1499 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000436863.7 | hg38 | chr11 | 105,025,508 | 105,035,250 | 9,743 |
ENST00000534497.5 | hg38 | chr11 | 105,026,225 | 105,035,113 | 8,889 |
ENST00000526568.5 | hg38 | chr11 | 105,025,508 | 105,035,113 | 9,606 |
ENST00000525825.6 | hg38 | chr11 | 105,025,602 | 105,035,149 | 9,548 |
ENST00000695717.1 | hg38 | chr11 | 105,025,397 | 105,035,143 | 9,747 |
ENST00000695715.1 | hg38 | chr11 | 105,025,635 | 105,034,859 | 9,225 |
ENST00000531166.5 | hg38 | chr11 | 105,026,225 | 105,035,113 | 8,889 |
ENST00000527979.5 | hg38 | chr11 | 105,025,508 | 105,035,129 | 9,622 |
ENST00000695718.1 | hg38 | chr11 | 105,025,561 | 105,035,147 | 9,587 |
ENST00000695719.1 | hg38 | chr11 | 105,025,508 | 105,035,143 | 9,636 |
ENST00000695720.1 | hg38 | chr11 | 105,025,602 | 105,035,143 | 9,542 |
ENST00000695722.1 | hg38 | chr11 | 105,025,508 | 105,035,143 | 9,636 |
ENST00000695721.1 | hg38 | chr11 | 105,025,508 | 105,035,143 | 9,636 |
ENST00000533400.6 | hg38 | chr11 | 105,025,508 | 105,035,144 | 9,637 |
ENST00000528974.1 | hg38 | chr11 | 105,026,546 | 105,035,147 | 8,602 |
ENST00000436863.7 | hg19 | chr11 | 104,896,235 | 104,905,977 | 9,743 |
ENST00000525825.6 | hg19 | chr11 | 104,896,329 | 104,905,876 | 9,548 |
ENST00000526568.5 | hg19 | chr11 | 104,896,235 | 104,905,840 | 9,606 |
ENST00000527979.5 | hg19 | chr11 | 104,896,235 | 104,905,856 | 9,622 |
ENST00000528974.1 | hg19 | chr11 | 104,897,273 | 104,905,874 | 8,602 |
ENST00000531166.5 | hg19 | chr11 | 104,896,952 | 104,905,840 | 8,889 |
ENST00000533400.6 | hg19 | chr11 | 104,896,235 | 104,905,871 | 9,637 |
ENST00000695722.1 | hg19 | chr11 | 104,896,235 | 104,905,870 | 9,636 |
ENST00000695718.1 | hg19 | chr11 | 104,896,288 | 104,905,874 | 9,587 |
ENST00000695720.1 | hg19 | chr11 | 104,896,329 | 104,905,870 | 9,542 |
ENST00000695721.1 | hg19 | chr11 | 104,896,235 | 104,905,870 | 9,636 |
ENST00000695715.1 | hg19 | chr11 | 104,896,362 | 104,905,586 | 9,225 |
ENST00000695719.1 | hg19 | chr11 | 104,896,235 | 104,905,870 | 9,636 |
ENST00000534497.5 | hg19 | chr11 | 104,896,952 | 104,905,840 | 8,889 |
ENST00000695717.1 | hg19 | chr11 | 104,896,124 | 104,905,870 | 9,747 |
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