CFAP65 cilia and flagella associated protein 65

Information
Symbol
CFAP65
Type
protein-coding
Description
cilia and flagella associated protein 65
Entrez Gene ID
255101
Genome
hg19
Position
chr2:219,867,568-219,906,238
Genome
hg38
Position
chr2:219,002,846-219,041,516
MIM
614270 OMIM
HGNC
HGNC:25325 HGNC
Ensembl
ENSG00000181378 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Benign 0 22
Likely benign 0 38
Uncertain significance 0 64
Ranking
ClinVar
0
0
6
112
18
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 :
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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 CCDC108
SYNONYM SPGF40
MIM 614270 OMIM
HGNC HGNC:25325 HGNC
Ensembl ENSG00000181378 Ensembl
AllianceGenome HGNC:25325
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000410037.5 hg38 chr2 219,027,080 219,041,516 14,437
ENST00000441968.5 hg38 chr2 219,026,550 219,039,006 12,457
ENST00000409865.7 hg38 chr2 219,027,063 219,041,516 14,454
ENST00000295729.6 hg38 chr2 219,033,692 219,041,523 7,832
ENST00000453220.5 hg38 chr2 219,002,847 219,039,057 36,211
ENST00000341552.10 hg38 chr2 219,002,846 219,041,516 38,671
ENST00000341552.10 hg19 chr2 219,867,568 219,906,238 38,671
ENST00000453220.5 hg19 chr2 219,867,569 219,903,779 36,211
ENST00000441968.5 hg19 chr2 219,891,272 219,903,728 12,457
ENST00000409865.7 hg19 chr2 219,891,785 219,906,238 14,454
ENST00000410037.5 hg19 chr2 219,891,802 219,906,238 14,437
ENST00000295729.6 hg19 chr2 219,898,414 219,906,245 7,832
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