CCDC115 coiled-coil domain containing 115

Information
Symbol
CCDC115
Type
protein-coding
Description
coiled-coil domain containing 115
Entrez Gene ID
84317
Genome
hg19
Position
chr2:131,095,506-131,099,737
Genome
hg38
Position
chr2:130,337,933-130,342,164
MIM
613734 OMIM
HGNC
HGNC:28178 HGNC
Ensembl
ENSG00000136710 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 12
Likely benign 0 30
Conflicting classifications of pathogenicity 0 4
not provided 1 0
Uncertain significance 0 38
Ranking
ClinVar
0
0
20
60
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CDG2O
SYNONYM ccp1
MIM 613734 OMIM
HGNC HGNC:28178 HGNC
Ensembl ENSG00000136710 Ensembl
AllianceGenome HGNC:28178
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000259229.7 hg38 chr2 130,337,933 130,342,164 4,232
ENST00000409127.1 hg38 chr2 130,338,496 130,342,324 3,829
ENST00000259229.7 hg19 chr2 131,095,506 131,099,737 4,232
ENST00000409127.1 hg19 chr2 131,096,069 131,099,897 3,829
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