CCDC93 coiled-coil domain containing 93

Information
Symbol
CCDC93
Type
protein-coding
Description
coiled-coil domain containing 93
Entrez Gene ID
54520
Genome
hg19
Position
chr2:118,673,057-118,771,646
Genome
hg38
Position
chr2:117,915,481-118,014,070
MIM
620553 OMIM
HGNC
HGNC:25611 HGNC
Ensembl
ENSG00000125633 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
64
0
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
MIM 620553 OMIM
HGNC HGNC:25611 HGNC
Ensembl ENSG00000125633 Ensembl
AllianceGenome HGNC:25611
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376300.7 hg38 chr2 117,915,481 118,014,070 98,590
ENST00000319432.9 hg38 chr2 117,915,478 118,014,133 98,656
ENST00000319432.9 hg19 chr2 118,673,054 118,771,709 98,656
ENST00000376300.7 hg19 chr2 118,673,057 118,771,646 98,590
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