CCDC117 coiled-coil domain containing 117

Information
Symbol
CCDC117
Type
protein-coding
Description
coiled-coil domain containing 117
Entrez Gene ID
150275
Genome
hg19
Position
chr22:29,168,683-29,185,283
Genome
hg38
Position
chr22:28,772,695-28,789,295
HGNC
HGNC:26599 HGNC
Ensembl
ENSG00000159873 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
42
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 dJ366L4.1
HGNC HGNC:26599 HGNC
Ensembl ENSG00000159873 Ensembl
AllianceGenome HGNC:26599
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000421503.6 hg38 chr22 28,772,674 28,789,301 16,628
ENST00000448492.6 hg38 chr22 28,772,674 28,789,301 16,628
ENST00000249064.9 hg38 chr22 28,772,695 28,789,295 16,601
ENST00000421503.6 hg19 chr22 29,168,662 29,185,289 16,628
ENST00000448492.6 hg19 chr22 29,168,662 29,185,289 16,628
ENST00000249064.9 hg19 chr22 29,168,683 29,185,283 16,601
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