CCDC47 coiled-coil domain containing 47

Information
Symbol
CCDC47
Type
protein-coding
Description
coiled-coil domain containing 47
Entrez Gene ID
57003
Genome
hg19
Position
chr17:61,822,615-61,850,957
Genome
hg38
Position
chr17:63,745,255-63,773,597
MIM
618260 OMIM
HGNC
HGNC:24856 HGNC
Ensembl
ENSG00000108588 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 12
Benign 0 10
Likely benign 0 4
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
4
68
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
SYNONYM GK001
SYNONYM MSTP041
SYNONYM THNS
MIM 618260 OMIM
HGNC HGNC:24856 HGNC
Ensembl ENSG00000108588 Ensembl
AllianceGenome HGNC:24856
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000403162.7 hg38 chr17 63,746,403 63,773,570 27,168
ENST00000582252.1 hg38 chr17 63,751,770 63,773,570 21,801
ENST00000225726.10 hg38 chr17 63,745,255 63,773,597 28,343
ENST00000225726.10 hg19 chr17 61,822,615 61,850,957 28,343
ENST00000403162.7 hg19 chr17 61,823,763 61,850,930 27,168
ENST00000582252.1 hg19 chr17 61,829,130 61,850,930 21,801
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