CTSZ cathepsin Z
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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66 |
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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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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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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 | CTSX |
MIM | 603169 OMIM |
HGNC | HGNC:2547 HGNC |
Ensembl | ENSG00000101160 Ensembl |
AllianceGenome | HGNC:2547 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000680995.1 | hg38 | chr20 | 58,995,192 | 59,007,241 | 12,050 |
ENST00000680880.1 | hg38 | chr20 | 58,996,583 | 59,007,254 | 10,672 |
ENST00000680206.1 | hg38 | chr20 | 58,995,185 | 59,007,247 | 12,063 |
ENST00000680738.1 | hg38 | chr20 | 58,995,185 | 59,007,254 | 12,070 |
ENST00000680879.1 | hg38 | chr20 | 58,990,611 | 59,007,254 | 16,644 |
ENST00000681416.1 | hg38 | chr20 | 58,992,911 | 59,007,230 | 14,320 |
ENST00000681011.1 | hg38 | chr20 | 58,985,686 | 59,008,238 | 22,553 |
ENST00000217131.6 | hg38 | chr20 | 58,995,185 | 59,007,254 | 12,070 |
ENST00000681877.1 | hg38 | chr20 | 58,992,117 | 59,007,274 | 15,158 |
ENST00000680753.1 | hg38 | chr20 | 58,992,109 | 59,007,237 | 15,129 |
ENST00000679948.1 | hg38 | chr20 | 58,995,206 | 59,007,254 | 12,049 |
ENST00000681175.1 | hg38 | chr20 | 58,992,117 | 59,007,210 | 15,094 |
ENST00000680386.1 | hg38 | chr20 | 58,996,591 | 59,007,807 | 11,217 |
ENST00000217131.6 | hg19 | chr20 | 57,570,240 | 57,582,309 | 12,070 |
ENST00000681011.1 | hg19 | chr20 | 57,560,741 | 57,583,293 | 22,553 |
ENST00000680206.1 | hg19 | chr20 | 57,570,240 | 57,582,302 | 12,063 |
ENST00000680738.1 | hg19 | chr20 | 57,570,240 | 57,582,309 | 12,070 |
ENST00000680879.1 | hg19 | chr20 | 57,565,666 | 57,582,309 | 16,644 |
ENST00000680995.1 | hg19 | chr20 | 57,570,247 | 57,582,296 | 12,050 |
ENST00000680386.1 | hg19 | chr20 | 57,571,646 | 57,582,862 | 11,217 |
ENST00000680753.1 | hg19 | chr20 | 57,567,164 | 57,582,292 | 15,129 |
ENST00000679948.1 | hg19 | chr20 | 57,570,261 | 57,582,309 | 12,049 |
ENST00000680880.1 | hg19 | chr20 | 57,571,638 | 57,582,309 | 10,672 |
ENST00000681175.1 | hg19 | chr20 | 57,567,172 | 57,582,265 | 15,094 |
ENST00000681877.1 | hg19 | chr20 | 57,567,172 | 57,582,329 | 15,158 |
ENST00000681416.1 | hg19 | chr20 | 57,567,966 | 57,582,285 | 14,320 |
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