CCDC103 coiled-coil domain containing 103

Information
Symbol
CCDC103
Type
protein-coding
Description
coiled-coil domain containing 103
Entrez Gene ID
388389
Genome
hg19
Position
chr17:42,977,097-42,982,758
Genome
hg38
Position
chr17:44,899,729-44,905,390
MIM
614677 OMIM
HGNC
HGNC:32700 HGNC
Ensembl
ENSG00000167131 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 32
Likely pathogenic 0 8
Benign 0 20
Likely benign 0 140
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 154
Ranking
ClinVar
0
0
52
288
4
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 CILD17
SYNONYM PR46b
SYNONYM SMH
MIM 614677 OMIM
HGNC HGNC:32700 HGNC
Ensembl ENSG00000167131 Ensembl
AllianceGenome HGNC:32700
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000410027.5 hg38 chr17 44,899,739 44,902,482 2,744
ENST00000417826.3 hg38 chr17 44,899,729 44,905,390 5,662
ENST00000410006.6 hg38 chr17 44,899,712 44,902,882 3,171
ENST00000410006.6 hg19 chr17 42,977,080 42,980,250 3,171
ENST00000417826.3 hg19 chr17 42,977,097 42,982,758 5,662
ENST00000410027.5 hg19 chr17 42,977,107 42,979,850 2,744
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