CEP83 centrosomal protein 83

Information
Symbol
CEP83
Type
protein-coding
Description
centrosomal protein 83
Entrez Gene ID
51134
Genome
hg19
Position
chr12:94,701,474-94,853,643
Genome
hg38
Position
chr12:94,307,698-94,459,867
MIM
615847 OMIM
HGNC
HGNC:17966 HGNC
Ensembl
ENSG00000173588 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 64
Likely pathogenic 0 8
Benign 0 80
Likely benign 0 390
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 396
Ranking
ClinVar
0
0
78
850
4
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 :
Search word :
Filtering :
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 CCDC41
SYNONYM NPHP18
SYNONYM NY-REN-58
MIM 615847 OMIM
HGNC HGNC:17966 HGNC
Ensembl ENSG00000173588 Ensembl
AllianceGenome HGNC:17966
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000339839.9 hg38 chr12 94,308,280 94,459,946 151,667
ENST00000397809.10 hg38 chr12 94,307,698 94,459,867 152,170
ENST00000547575.5 hg38 chr12 94,368,398 94,459,952 91,555
ENST00000397809.10 hg19 chr12 94,701,474 94,853,643 152,170
ENST00000339839.9 hg19 chr12 94,702,056 94,853,722 151,667
ENST00000547575.5 hg19 chr12 94,762,174 94,853,728 91,555
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