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
0
0
0
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
Category :
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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
Category :
Search word :
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
Category :
Search word :
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
TypeID
SYNONYM HTX12
SYNONYM LMLN2
MIM 619703 OMIM
HGNC HGNC:53647 HGNC
Ensembl ENSG00000283654 Ensembl
AllianceGenome HGNC:53647
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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