CCDC43 coiled-coil domain containing 43

Information
Symbol
CCDC43
Type
protein-coding
Description
coiled-coil domain containing 43
Entrez Gene ID
124808
Genome
hg19
Position
chr17:42,754,808-42,767,144
Genome
hg38
Position
chr17:44,677,440-44,689,776
HGNC
HGNC:26472 HGNC
Ensembl
ENSG00000180329 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
30
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
HGNC HGNC:26472 HGNC
Ensembl ENSG00000180329 Ensembl
AllianceGenome HGNC:26472
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000315286.13 hg38 chr17 44,677,440 44,689,776 12,337
ENST00000457422.6 hg38 chr17 44,677,440 44,689,779 12,340
ENST00000588210.1 hg38 chr17 44,677,483 44,689,763 12,281
ENST00000315286.13 hg19 chr17 42,754,808 42,767,144 12,337
ENST00000457422.6 hg19 chr17 42,754,808 42,767,147 12,340
ENST00000588210.1 hg19 chr17 42,754,851 42,767,131 12,281
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