CCDC116 coiled-coil domain containing 116

Information
Symbol
CCDC116
Type
protein-coding
Description
coiled-coil domain containing 116
Entrez Gene ID
164592
Genome
hg19
Position
chr22:21,987,049-21,991,618
Genome
hg38
Position
chr22:21,632,760-21,637,329
HGNC
HGNC:26688 HGNC
Ensembl
ENSG00000161180 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 16
Likely benign 0 14
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
90
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
HGNC HGNC:26688 HGNC
Ensembl ENSG00000161180 Ensembl
AllianceGenome HGNC:26688
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000607942.5 hg38 chr22 21,632,716 21,635,802 3,087
ENST00000292779.4 hg38 chr22 21,632,760 21,637,329 4,570
ENST00000607942.5 hg19 chr22 21,987,005 21,990,091 3,087
ENST00000292779.4 hg19 chr22 21,987,049 21,991,618 4,570
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