CFAP119 cilia and flagella associated protein 119

Information
Symbol
CFAP119
Type
protein-coding
Description
cilia and flagella associated protein 119
Entrez Gene ID
90835
Genome
hg19
Position
chr16:30,768,744-30,773,383
Genome
hg38
Position
chr16:30,757,423-30,762,062
MIM
618318 OMIM
HGNC
HGNC:28078 HGNC
Ensembl
ENSG00000196118 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 12
Uncertain significance 0 50
Ranking
ClinVar
0
0
2
64
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 :
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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 C16orf93
SYNONYM CCDC189
MIM 618318 OMIM
HGNC HGNC:28078 HGNC
Ensembl ENSG00000196118 Ensembl
AllianceGenome HGNC:28078
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000545825.1 hg38 chr16 30,760,037 30,762,078 2,042
ENST00000543610.6 hg38 chr16 30,757,423 30,762,062 4,640
ENST00000541260.5 hg38 chr16 30,757,467 30,762,079 4,613
ENST00000543610.6 hg19 chr16 30,768,744 30,773,383 4,640
ENST00000541260.5 hg19 chr16 30,768,788 30,773,400 4,613
ENST00000545825.1 hg19 chr16 30,771,358 30,773,399 2,042
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