CEP295 centrosomal protein 295

Information
Symbol
CEP295
Type
protein-coding
Description
centrosomal protein 295
Entrez Gene ID
85459
Genome
hg19
Position
chr11:93,394,848-93,463,524
Genome
hg38
Position
chr11:93,661,682-93,730,358
MIM
617728 OMIM
HGNC
HGNC:29366 HGNC
Ensembl
ENSG00000166004 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 34
Likely benign 0 28
Uncertain significance 0 318
Ranking
ClinVar
0
0
0
378
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 :
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 KIAA1731
SYNONYM SCKL11
MIM 617728 OMIM
HGNC HGNC:29366 HGNC
Ensembl ENSG00000166004 Ensembl
AllianceGenome HGNC:29366
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000531700.5 hg38 chr11 93,695,530 93,730,356 34,827
ENST00000325212.11 hg38 chr11 93,661,682 93,730,358 68,677
ENST00000325212.11 hg19 chr11 93,394,848 93,463,524 68,677
ENST00000531700.5 hg19 chr11 93,428,696 93,463,522 34,827
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