CFAP45 cilia and flagella associated protein 45

Information
Symbol
CFAP45
Type
protein-coding
Description
cilia and flagella associated protein 45
Entrez Gene ID
25790
Genome
hg19
Position
chr1:159,842,154-159,869,955
Genome
hg38
Position
chr1:159,872,364-159,900,165
MIM
605152 OMIM
HGNC
HGNC:17229 HGNC
Ensembl
ENSG00000213085 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 2
Likely benign 0 8
Uncertain significance 0 90
Ranking
ClinVar
0
0
0
100
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 :
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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 CCDC19
SYNONYM HTX11
SYNONYM NESG1
MIM 605152 OMIM
HGNC HGNC:17229 HGNC
Ensembl ENSG00000213085 Ensembl
AllianceGenome HGNC:17229
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368099.9 hg38 chr1 159,872,364 159,900,165 27,802
ENST00000426543.6 hg38 chr1 159,872,366 159,898,269 25,904
ENST00000368099.9 hg19 chr1 159,842,154 159,869,955 27,802
ENST00000426543.6 hg19 chr1 159,842,156 159,868,059 25,904
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