CCDC65 coiled-coil domain containing 65

Information
Symbol
CCDC65
Type
protein-coding
Description
coiled-coil domain containing 65
Entrez Gene ID
85478
Genome
hg19
Position
chr12:49,297,916-49,315,359
Genome
hg38
Position
chr12:48,904,133-48,921,576
MIM
611088 OMIM
HGNC
HGNC:29937 HGNC
Ensembl
ENSG00000139537 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 4
Benign 0 80
Likely benign 0 130
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 228
Ranking
ClinVar
0
0
76
376
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 CFAP250
SYNONYM DRC2
SYNONYM FAP250
SYNONYM NYD-SP28
MIM 611088 OMIM
HGNC HGNC:29937 HGNC
Ensembl ENSG00000139537 Ensembl
AllianceGenome HGNC:29937
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000320516.5 hg38 chr12 48,904,133 48,921,576 17,444
ENST00000266984.9 hg38 chr12 48,904,110 48,931,840 27,731
ENST00000266984.9 hg19 chr12 49,297,893 49,325,623 27,731
ENST00000320516.5 hg19 chr12 49,297,916 49,315,359 17,444
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