CAPNS1 calpain small subunit 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 32 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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36 |
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4 |
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
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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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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 |
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SYNONYM | CALPAIN4 |
SYNONYM | CANP |
SYNONYM | CANPS |
SYNONYM | CAPN4 |
SYNONYM | CDPS |
SYNONYM | CSS1 |
SYNONYM | PPH6 |
MIM | 114170 OMIM |
HGNC | HGNC:1481 HGNC |
Ensembl | ENSG00000126247 Ensembl |
AllianceGenome | HGNC:1481 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000628306.2 | hg38 | chr19 | 36,140,015 | 36,150,353 | 10,339 |
ENST00000246533.8 | hg38 | chr19 | 36,140,066 | 36,150,353 | 10,288 |
ENST00000629983.2 | hg38 | chr19 | 36,141,012 | 36,150,353 | 9,342 |
ENST00000587718.5 | hg38 | chr19 | 36,140,108 | 36,150,349 | 10,242 |
ENST00000588780.5 | hg38 | chr19 | 36,140,968 | 36,149,993 | 9,026 |
ENST00000590874.5 | hg38 | chr19 | 36,140,123 | 36,150,001 | 9,879 |
ENST00000589146.5 | hg38 | chr19 | 36,139,953 | 36,149,912 | 9,960 |
ENST00000588815.5 | hg38 | chr19 | 36,140,127 | 36,150,352 | 10,226 |
ENST00000628018.2 | hg38 | chr19 | 36,140,015 | 36,150,353 | 10,339 |
ENST00000246533.8 | hg19 | chr19 | 36,630,968 | 36,641,255 | 10,288 |
ENST00000587718.5 | hg19 | chr19 | 36,631,010 | 36,641,251 | 10,242 |
ENST00000590874.5 | hg19 | chr19 | 36,631,025 | 36,640,903 | 9,879 |
ENST00000588815.5 | hg19 | chr19 | 36,631,029 | 36,641,254 | 10,226 |
ENST00000589146.5 | hg19 | chr19 | 36,630,855 | 36,640,814 | 9,960 |
ENST00000588780.5 | hg19 | chr19 | 36,631,870 | 36,640,895 | 9,026 |
ENST00000629983.2 | hg19 | chr19 | 36,631,914 | 36,641,255 | 9,342 |
ENST00000628306.2 | hg19 | chr19 | 36,630,917 | 36,641,255 | 10,339 |
ENST00000628018.2 | hg19 | chr19 | 36,630,917 | 36,641,255 | 10,339 |
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