CTSF cathepsin F
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 28 |
| Likely pathogenic | 0 | 24 |
| Benign | 0 | 62 |
| Likely benign | 0 | 140 |
| Conflicting classifications of pathogenicity | 0 | 24 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 188 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
94 |
 |
318 |
 |
8 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| 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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| Category | : |
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| Filtering | : |
| 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 | CATSF |
| SYNONYM | CLN13 |
| MIM | 603539 OMIM |
| HGNC | HGNC:2531 HGNC |
| Ensembl | ENSG00000174080 Ensembl |
| AllianceGenome | HGNC:2531 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000677005.1 | hg38 | chr11 | 66,563,464 | 66,568,606 | 5,143 |
| ENST00000526010.2 | hg38 | chr11 | 66,563,464 | 66,568,879 | 5,416 |
| ENST00000524994.6 | hg38 | chr11 | 66,563,796 | 66,568,606 | 4,811 |
| ENST00000678305.1 | hg38 | chr11 | 66,563,464 | 66,568,605 | 5,142 |
| ENST00000678872.1 | hg38 | chr11 | 66,563,464 | 66,568,606 | 5,143 |
| ENST00000677896.1 | hg38 | chr11 | 66,563,464 | 66,568,606 | 5,143 |
| ENST00000678471.1 | hg38 | chr11 | 66,563,491 | 66,568,606 | 5,116 |
| ENST00000679347.1 | hg38 | chr11 | 66,563,464 | 66,568,606 | 5,143 |
| ENST00000310325.10 | hg38 | chr11 | 66,563,464 | 66,568,606 | 5,143 |
| ENST00000679160.1 | hg38 | chr11 | 66,563,464 | 66,568,575 | 5,112 |
| ENST00000679024.1 | hg38 | chr11 | 66,563,464 | 66,568,606 | 5,143 |
| ENST00000677587.1 | hg38 | chr11 | 66,563,464 | 66,568,606 | 5,143 |
| ENST00000310325.10 | hg19 | chr11 | 66,330,935 | 66,336,077 | 5,143 |
| ENST00000524994.6 | hg19 | chr11 | 66,331,267 | 66,336,077 | 4,811 |
| ENST00000679160.1 | hg19 | chr11 | 66,330,935 | 66,336,046 | 5,112 |
| ENST00000526010.2 | hg19 | chr11 | 66,330,935 | 66,336,350 | 5,416 |
| ENST00000678305.1 | hg19 | chr11 | 66,330,935 | 66,336,076 | 5,142 |
| ENST00000677896.1 | hg19 | chr11 | 66,330,935 | 66,336,077 | 5,143 |
| ENST00000677587.1 | hg19 | chr11 | 66,330,935 | 66,336,077 | 5,143 |
| ENST00000677005.1 | hg19 | chr11 | 66,330,935 | 66,336,077 | 5,143 |
| ENST00000679347.1 | hg19 | chr11 | 66,330,935 | 66,336,077 | 5,143 |
| ENST00000678471.1 | hg19 | chr11 | 66,330,962 | 66,336,077 | 5,116 |
| ENST00000678872.1 | hg19 | chr11 | 66,330,935 | 66,336,077 | 5,143 |
| ENST00000679024.1 | hg19 | chr11 | 66,330,935 | 66,336,077 | 5,143 |
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