CAPN10 calpain 10
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Benign | 0 | 26 |
| Likely benign | 0 | 52 |
| risk factor | 0 | 8 |
| Uncertain significance | 0 | 100 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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14 |
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164 |
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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
[No Data.]
Locus Zoom
Variants
Search Word
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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 | |||||||||||
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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 | CANP10 |
| SYNONYM | NIDDM1 |
| MIM | 605286 OMIM |
| HGNC | HGNC:1477 HGNC |
| Ensembl | ENSG00000142330 Ensembl |
| AllianceGenome | HGNC:1477 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000352879.8 | hg38 | chr2 | 240,586,871 | 240,599,084 | 12,214 |
| ENST00000404753.7 | hg38 | chr2 | 240,586,739 | 240,599,104 | 12,366 |
| ENST00000270364.11 | hg38 | chr2 | 240,586,772 | 240,617,705 | 30,934 |
| ENST00000354082.8 | hg38 | chr2 | 240,586,871 | 240,599,084 | 12,214 |
| ENST00000391984.7 | hg38 | chr2 | 240,586,734 | 240,599,104 | 12,371 |
| ENST00000391984.7 | hg19 | chr2 | 241,526,151 | 241,538,521 | 12,371 |
| ENST00000404753.7 | hg19 | chr2 | 241,526,156 | 241,538,521 | 12,366 |
| ENST00000270364.11 | hg19 | chr2 | 241,526,189 | 241,557,122 | 30,934 |
| ENST00000352879.8 | hg19 | chr2 | 241,526,288 | 241,538,501 | 12,214 |
| ENST00000354082.8 | hg19 | chr2 | 241,526,288 | 241,538,501 | 12,214 |
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