CFAP300 cilia and flagella associated protein 300

Information
Symbol
CFAP300
Type
protein-coding
Description
cilia and flagella associated protein 300
Entrez Gene ID
85016
Genome
hg19
Position
chr11:101,918,168-101,955,285
Genome
hg38
Position
chr11:102,047,437-102,084,554
MIM
618058 OMIM
HGNC
HGNC:28188 HGNC
Ensembl
ENSG00000137691 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 8
Benign 0 24
Likely benign 0 72
Uncertain significance 0 46
Ranking
ClinVar
0
0
16
144
8
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 C11orf70
SYNONYM CILD38
SYNONYM DNAAF17
SYNONYM FBB5
MIM 618058 OMIM
HGNC HGNC:28188 HGNC
Ensembl ENSG00000137691 Ensembl
AllianceGenome HGNC:28188
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000434758.7 hg38 chr11 102,047,437 102,084,554 37,118
ENST00000526781.5 hg38 chr11 102,047,455 102,081,435 33,981
ENST00000534360.1 hg38 chr11 102,047,458 102,076,111 28,654
ENST00000434758.7 hg19 chr11 101,918,168 101,955,285 37,118
ENST00000526781.5 hg19 chr11 101,918,186 101,952,166 33,981
ENST00000534360.1 hg19 chr11 101,918,189 101,946,842 28,654
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