CCDC78 coiled-coil domain containing 78

Information
Symbol
CCDC78
Type
protein-coding
Description
coiled-coil domain containing 78
Entrez Gene ID
124093
Genome
hg19
Position
chr16:772,582-776,443
Genome
hg38
Position
chr16:722,582-726,443
MIM
614666 OMIM
HGNC
HGNC:14153 HGNC
Ensembl
ENSG00000162004 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 100
Likely benign 0 446
Conflicting classifications of pathogenicity 0 42
Uncertain significance 0 540
Ranking
ClinVar
0
0
144
904
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 C16orf25
SYNONYM CNM4
SYNONYM JFP10
SYNONYM hsCCDC78
MIM 614666 OMIM
HGNC HGNC:14153 HGNC
Ensembl ENSG00000162004 Ensembl
AllianceGenome HGNC:14153
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000345165.10 hg38 chr16 722,582 726,443 3,862
ENST00000293889.10 hg38 chr16 722,582 726,473 3,892
ENST00000345165.10 hg19 chr16 772,582 776,443 3,862
ENST00000293889.10 hg19 chr16 772,582 776,473 3,892
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