C2CD3 C2 domain containing 3 centriole elongation regulator

Information
Symbol
C2CD3
Type
protein-coding
Description
C2 domain containing 3 centriole elongation regulator
Entrez Gene ID
26005
Genome
hg19
Position
chr11:73,723,763-73,882,047
Genome
hg38
Position
chr11:74,012,718-74,171,002
MIM
615944 OMIM
HGNC
HGNC:24564 HGNC
Ensembl
ENSG00000168014 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 88
Likely pathogenic 0 44
Benign 0 306
Likely benign 0 604
Conflicting classifications of pathogenicity 0 58
Uncertain significance 0 740
Ranking
ClinVar
0
0
246
1,484
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 OFD14
MIM 615944 OMIM
HGNC HGNC:24564 HGNC
Ensembl ENSG00000168014 Ensembl
AllianceGenome HGNC:24564
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000538361.2 hg38 chr11 74,036,128 74,170,792 134,665
ENST00000334126.12 hg38 chr11 74,012,718 74,171,002 158,285
ENST00000681310.1 hg38 chr11 74,034,432 74,170,792 136,361
ENST00000680718.1 hg38 chr11 74,128,054 74,171,002 42,949
ENST00000681143.1 hg38 chr11 74,012,745 74,170,792 158,048
ENST00000679906.1 hg38 chr11 74,012,775 74,170,792 158,018
ENST00000680231.1 hg38 chr11 74,012,718 74,170,792 158,075
ENST00000313663.11 hg38 chr11 74,034,434 74,171,019 136,586
ENST00000680645.1 hg38 chr11 74,131,868 74,171,000 39,133
ENST00000539061.6 hg38 chr11 74,128,578 74,171,000 42,423
ENST00000414160.7 hg38 chr11 74,034,442 74,170,792 136,351
ENST00000334126.12 hg19 chr11 73,723,763 73,882,047 158,285
ENST00000313663.11 hg19 chr11 73,745,479 73,882,064 136,586
ENST00000414160.7 hg19 chr11 73,745,487 73,881,837 136,351
ENST00000538361.2 hg19 chr11 73,747,173 73,881,837 134,665
ENST00000680718.1 hg19 chr11 73,839,099 73,882,047 42,949
ENST00000539061.6 hg19 chr11 73,839,623 73,882,045 42,423
ENST00000680645.1 hg19 chr11 73,842,913 73,882,045 39,133
ENST00000679906.1 hg19 chr11 73,723,820 73,881,837 158,018
ENST00000680231.1 hg19 chr11 73,723,763 73,881,837 158,075
ENST00000681143.1 hg19 chr11 73,723,790 73,881,837 158,048
ENST00000681310.1 hg19 chr11 73,745,477 73,881,837 136,361
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