CCDC40 coiled-coil domain 40 molecular ruler complex subunit

Information
Symbol
CCDC40
Type
protein-coding
Description
coiled-coil domain 40 molecular ruler complex subunit
Entrez Gene ID
55036
Genome
hg19
Position
chr17:78,010,441-78,074,412
Genome
hg38
Position
chr17:80,036,642-80,100,613
MIM
613799 OMIM
HGNC
HGNC:26090 HGNC
Ensembl
ENSG00000141519 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 130
Likely pathogenic 0 52
Benign 0 302
Likely benign 0 600
Conflicting classifications of pathogenicity 0 138
Uncertain significance 0 732
Ranking
ClinVar
0
0
414
1,302
20
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 CFAP172
SYNONYM CILD15
SYNONYM FAP172
MIM 613799 OMIM
HGNC HGNC:26090 HGNC
Ensembl ENSG00000141519 Ensembl
AllianceGenome HGNC:26090
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374876.4 hg38 chr17 80,036,658 80,066,770 30,113
ENST00000374877.7 hg38 chr17 80,036,632 80,090,819 54,188
ENST00000269318.9 hg38 chr17 80,036,652 80,067,901 31,250
ENST00000397545.9 hg38 chr17 80,036,642 80,100,613 63,972
ENST00000374877.7 hg19 chr17 78,010,431 78,064,618 54,188
ENST00000397545.9 hg19 chr17 78,010,441 78,074,412 63,972
ENST00000269318.9 hg19 chr17 78,010,451 78,041,700 31,250
ENST00000374876.4 hg19 chr17 78,010,457 78,040,569 30,113
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