CFAP52 cilia and flagella associated protein 52

Information
Symbol
CFAP52
Type
protein-coding
Description
cilia and flagella associated protein 52
Entrez Gene ID
146845
Genome
hg19
Position
chr17:9,479,959-9,546,764
Genome
hg38
Position
chr17:9,576,642-9,643,447
MIM
609804 OMIM
HGNC
HGNC:16053 HGNC
Ensembl
ENSG00000166596 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 2
Likely pathogenic 0 6
Benign 0 36
Likely benign 0 48
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 110
Ranking
ClinVar
0
0
22
176
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 HTX10
SYNONYM WDR16
SYNONYM WDRPUH
MIM 609804 OMIM
HGNC HGNC:16053 HGNC
Ensembl ENSG00000166596 Ensembl
AllianceGenome HGNC:16053
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396219.7 hg38 chr17 9,576,627 9,643,382 66,756
ENST00000352665.10 hg38 chr17 9,576,642 9,643,447 66,806
ENST00000576499.1 hg38 chr17 9,576,682 9,594,486 17,805
ENST00000396219.7 hg19 chr17 9,479,944 9,546,699 66,756
ENST00000352665.10 hg19 chr17 9,479,959 9,546,764 66,806
ENST00000576499.1 hg19 chr17 9,479,999 9,497,803 17,805
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