CIROP ciliated left-right organizer metallopeptidase
Information
- Symbol
- CIROP
- Type
- protein-coding
- Description
- ciliated left-right organizer metallopeptidase
- Entrez Gene ID
- 100128908
- Genome
- hg19
- Position
- chr14:23,568,271-23,574,198
- Genome
- hg38
- Position
- chr14:23,099,062-23,104,989
- MIM
- 619703 OMIM
- HGNC
- HGNC:53647 HGNC
- Ensembl
- ENSG00000283654 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Likely pathogenic | 0 | 2 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 6 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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16 |
![]() |
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 | HTX12 |
| SYNONYM | LMLN2 |
| MIM | 619703 OMIM |
| HGNC | HGNC:53647 HGNC |
| Ensembl | ENSG00000283654 Ensembl |
| AllianceGenome | HGNC:53647 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000637218.2 | hg38 | chr14 | 23,099,062 | 23,104,989 | 5,928 |
| ENST00000644000.1 | hg38 | chr14 | 23,099,282 | 23,104,920 | 5,639 |
| ENST00000637218.2 | hg19 | chr14 | 23,568,271 | 23,574,198 | 5,928 |
| ENST00000644000.1 | hg19 | chr14 | 23,568,491 | 23,574,129 | 5,639 |
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