CCDC120 coiled-coil domain containing 120

Information
Symbol
CCDC120
Type
protein-coding
Description
coiled-coil domain containing 120
Entrez Gene ID
90060
Genome
hg19
Position
chrX:48,916,530-48,927,506
Genome
hg38
Position
chrX:49,058,999-49,069,854
MIM
300947 OMIM
HGNC
HGNC:28910 HGNC
Ensembl
ENSG00000147144 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 10
not provided 7 0
Uncertain significance 0 70
Ranking
ClinVar
0
0
0
78
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 JM11
MIM 300947 OMIM
HGNC HGNC:28910 HGNC
Ensembl ENSG00000147144 Ensembl
AllianceGenome HGNC:28910
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000603986.6 hg38 chrX 49,058,999 49,069,854 10,856
ENST00000603906.2 hg38 chrX 49,059,021 49,068,946 9,926
ENST00000496529.6 hg38 chrX 49,058,966 49,068,339 9,374
ENST00000606812.5 hg38 chrX 49,058,983 49,069,857 10,875
ENST00000597275.5 hg38 chrX 49,053,572 49,068,464 14,893
ENST00000536628.3 hg38 chrX 49,059,015 49,068,354 9,340
ENST00000597275.5 hg19 chrX 48,911,101 48,926,000 14,900
ENST00000496529.6 hg19 chrX 48,916,497 48,925,875 9,379
ENST00000606812.5 hg19 chrX 48,916,514 48,927,509 10,996
ENST00000603986.6 hg19 chrX 48,916,530 48,927,506 10,977
ENST00000536628.3 hg19 chrX 48,916,546 48,925,890 9,345
ENST00000603906.2 hg19 chrX 48,916,552 48,926,482 9,931
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