CFAP251 cilia and flagella associated protein 251

Information
Symbol
CFAP251
Type
protein-coding
Description
cilia and flagella associated protein 251
Entrez Gene ID
144406
Genome
hg19
Position
chr12:122,356,498-122,441,825
Genome
hg38
Position
chr12:121,918,592-122,003,919
MIM
618146 OMIM
HGNC
HGNC:28506 HGNC
Ensembl
ENSG00000158023 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 24
Likely benign 0 42
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 134
Ranking
ClinVar
0
0
8
188
10
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 :
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 CaM-IP4
SYNONYM SPGF33
SYNONYM WDR66
MIM 618146 OMIM
HGNC HGNC:28506 HGNC
Ensembl ENSG00000158023 Ensembl
AllianceGenome HGNC:28506
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000397454.2 hg38 chr12 121,918,592 121,972,069 53,478
ENST00000288912.9 hg38 chr12 121,918,592 122,003,919 85,328
ENST00000397454.2 hg19 chr12 122,356,498 122,409,975 53,478
ENST00000288912.9 hg19 chr12 122,356,498 122,441,825 85,328
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