CDK5RAP3 CDK5 regulatory subunit associated protein 3

Information
Symbol
CDK5RAP3
Type
protein-coding
Description
CDK5 regulatory subunit associated protein 3
Entrez Gene ID
80279
Genome
hg19
Position
chr17:46,047,900-46,059,138
Genome
hg38
Position
chr17:47,970,534-47,981,772
MIM
608202 OMIM
HGNC
HGNC:18673 HGNC
Ensembl
ENSG00000108465 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
60
0
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 C53
SYNONYM HSF-27
SYNONYM IC53
SYNONYM LZAP
SYNONYM MST016
SYNONYM OK/SW-cl.114
SYNONYM PP1553
MIM 608202 OMIM
HGNC HGNC:18673 HGNC
Ensembl ENSG00000108465 Ensembl
AllianceGenome HGNC:18673
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000536708.6 hg38 chr17 47,970,534 47,981,772 11,239
ENST00000338399.9 hg38 chr17 47,971,113 47,981,781 10,669
ENST00000536708.6 hg19 chr17 46,047,900 46,059,138 11,239
ENST00000338399.9 hg19 chr17 46,048,479 46,059,147 10,669
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