CCDC134 coiled-coil domain containing 134

Information
Symbol
CCDC134
Type
protein-coding
Description
coiled-coil domain containing 134
Entrez Gene ID
79879
Genome
hg19
Position
chr22:42,196,683-42,228,168
Genome
hg38
Position
chr22:41,800,679-41,832,164
MIM
618788 OMIM
HGNC
HGNC:26185 HGNC
Ensembl
ENSG00000100147 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely benign 0 2
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
42
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 :
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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 OI22
MIM 618788 OMIM
HGNC HGNC:26185 HGNC
Ensembl ENSG00000100147 Ensembl
AllianceGenome HGNC:26185
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000255784.6 hg38 chr22 41,800,679 41,832,164 31,486
ENST00000402061.7 hg38 chr22 41,800,679 41,825,893 25,215
ENST00000402061.7 hg19 chr22 42,196,683 42,221,897 25,215
ENST00000255784.6 hg19 chr22 42,196,683 42,228,168 31,486
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