CCDC144A coiled-coil domain containing 144A

Information
Symbol
CCDC144A
Type
protein-coding
Description
coiled-coil domain containing 144A
Entrez Gene ID
9720
Genome
hg19
Position
chr17:16,593,639-16,678,313
Genome
hg38
Position
chr17:16,690,325-16,774,999
MIM
619413 OMIM
HGNC
HGNC:29072 HGNC
Ensembl
ENSG00000170160 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 20
not provided 2 0
Uncertain significance 0 84
Ranking
ClinVar
0
0
0
104
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
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
MIM 619413 OMIM
HGNC HGNC:29072 HGNC
Ensembl ENSG00000170160 Ensembl
AllianceGenome HGNC:29072
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000697416.1 hg38 chr17 16,690,325 16,774,999 84,675
ENST00000399273.5 hg38 chr17 16,690,241 16,777,881 87,641
ENST00000360524.12 hg38 chr17 16,690,325 16,774,999 84,675
ENST00000340621.9 hg38 chr17 16,690,232 16,712,148 21,917
ENST00000340621.9 hg19 chr17 16,593,546 16,615,462 21,917
ENST00000399273.5 hg19 chr17 16,593,555 16,681,195 87,641
ENST00000697416.1 hg19 chr17 16,593,639 16,678,313 84,675
ENST00000360524.12 hg19 chr17 16,593,639 16,678,313 84,675
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