CDC42EP5 CDC42 effector protein 5

Information
Symbol
CDC42EP5
Type
protein-coding
Description
CDC42 effector protein 5
Entrez Gene ID
148170
Genome
hg19
Position
chr19:54,976,210-54,984,443
Genome
hg38
Position
chr19:54,465,026-54,473,296
MIM
609171 OMIM
HGNC
HGNC:17408 HGNC
Ensembl
ENSG00000167617 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
48
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 :
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 Borg3
SYNONYM CEP5
MIM 609171 OMIM
HGNC HGNC:17408 HGNC
Ensembl ENSG00000167617 Ensembl
AllianceGenome HGNC:17408
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000301200.3 hg38 chr19 54,465,026 54,473,296 8,271
ENST00000301200.3 hg19 chr19 54,976,210 54,984,443 8,234
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