CCDC8 coiled-coil domain containing 8

Information
Symbol
CCDC8
Type
protein-coding
Description
coiled-coil domain containing 8
Entrez Gene ID
83987
Genome
hg19
Position
chr19:46,913,586-46,916,821
Genome
hg38
Position
chr19:46,410,329-46,413,564
MIM
614145 OMIM
HGNC
HGNC:25367 HGNC
Ensembl
ENSG00000169515 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 20
Benign 0 36
Likely benign 0 98
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 218
Ranking
ClinVar
0
0
78
286
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 3M3
SYNONYM PPP1R20
SYNONYM p90
MIM 614145 OMIM
HGNC HGNC:25367 HGNC
Ensembl ENSG00000169515 Ensembl
AllianceGenome HGNC:25367
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000697726.1 hg38 chr19 46,410,329 46,413,564 3,236
ENST00000307522.5 hg38 chr19 46,410,329 46,413,564 3,236
ENST00000697726.1 hg19 chr19 46,913,586 46,916,821 3,236
ENST00000307522.5 hg19 chr19 46,913,586 46,916,821 3,236
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