CTSL cathepsin L
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 38 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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44 |
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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
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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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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 |
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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 | CATL |
SYNONYM | CTSL1 |
SYNONYM | MEP |
MIM | 116880 OMIM |
HGNC | HGNC:2537 HGNC |
Ensembl | ENSG00000135047 Ensembl |
AllianceGenome | HGNC:2537 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000676946.1 | hg38 | chr9 | 87,725,712 | 87,731,389 | 5,678 |
ENST00000678596.1 | hg38 | chr9 | 87,726,170 | 87,731,320 | 5,151 |
ENST00000678599.1 | hg38 | chr9 | 87,726,186 | 87,731,393 | 5,208 |
ENST00000676881.1 | hg38 | chr9 | 87,726,122 | 87,731,393 | 5,272 |
ENST00000677864.1 | hg38 | chr9 | 87,726,119 | 87,731,469 | 5,351 |
ENST00000678649.1 | hg38 | chr9 | 87,726,119 | 87,731,348 | 5,230 |
ENST00000340342.11 | hg38 | chr9 | 87,726,122 | 87,731,391 | 5,270 |
ENST00000677019.1 | hg38 | chr9 | 87,726,105 | 87,731,189 | 5,085 |
ENST00000676769.1 | hg38 | chr9 | 87,726,166 | 87,731,348 | 5,183 |
ENST00000679157.1 | hg38 | chr9 | 87,725,644 | 87,731,466 | 5,823 |
ENST00000679149.1 | hg38 | chr9 | 87,725,551 | 87,731,466 | 5,916 |
ENST00000677821.1 | hg38 | chr9 | 87,726,086 | 87,731,393 | 5,308 |
ENST00000677761.1 | hg38 | chr9 | 87,726,252 | 87,731,348 | 5,097 |
ENST00000677262.1 | hg38 | chr9 | 87,726,119 | 87,731,393 | 5,275 |
ENST00000676531.1 | hg38 | chr9 | 87,725,735 | 87,731,393 | 5,659 |
ENST00000678442.1 | hg38 | chr9 | 87,724,051 | 87,731,295 | 7,245 |
ENST00000679030.1 | hg38 | chr9 | 87,726,170 | 87,731,393 | 5,224 |
ENST00000676480.1 | hg38 | chr9 | 87,726,461 | 87,731,354 | 4,894 |
ENST00000343150.10 | hg38 | chr9 | 87,726,119 | 87,731,469 | 5,351 |
ENST00000342020.6 | hg38 | chr9 | 87,726,119 | 87,731,393 | 5,275 |
ENST00000340342.11 | hg19 | chr9 | 90,341,037 | 90,346,306 | 5,270 |
ENST00000676531.1 | hg19 | chr9 | 90,340,650 | 90,346,308 | 5,659 |
ENST00000676881.1 | hg19 | chr9 | 90,341,037 | 90,346,308 | 5,272 |
ENST00000677864.1 | hg19 | chr9 | 90,341,034 | 90,346,384 | 5,351 |
ENST00000343150.10 | hg19 | chr9 | 90,341,034 | 90,346,384 | 5,351 |
ENST00000677262.1 | hg19 | chr9 | 90,341,034 | 90,346,308 | 5,275 |
ENST00000342020.6 | hg19 | chr9 | 90,341,034 | 90,346,308 | 5,275 |
ENST00000677761.1 | hg19 | chr9 | 90,341,167 | 90,346,263 | 5,097 |
ENST00000676480.1 | hg19 | chr9 | 90,341,376 | 90,346,269 | 4,894 |
ENST00000677019.1 | hg19 | chr9 | 90,341,020 | 90,346,104 | 5,085 |
ENST00000676946.1 | hg19 | chr9 | 90,340,627 | 90,346,304 | 5,678 |
ENST00000677821.1 | hg19 | chr9 | 90,341,001 | 90,346,308 | 5,308 |
ENST00000679149.1 | hg19 | chr9 | 90,340,466 | 90,346,381 | 5,916 |
ENST00000676769.1 | hg19 | chr9 | 90,341,081 | 90,346,263 | 5,183 |
ENST00000678596.1 | hg19 | chr9 | 90,341,085 | 90,346,235 | 5,151 |
ENST00000678599.1 | hg19 | chr9 | 90,341,101 | 90,346,308 | 5,208 |
ENST00000678442.1 | hg19 | chr9 | 90,338,966 | 90,346,210 | 7,245 |
ENST00000678649.1 | hg19 | chr9 | 90,341,034 | 90,346,263 | 5,230 |
ENST00000679157.1 | hg19 | chr9 | 90,340,559 | 90,346,381 | 5,823 |
ENST00000679030.1 | hg19 | chr9 | 90,341,085 | 90,346,308 | 5,224 |
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