CEBPA CCAAT enhancer binding protein alpha

Information
Symbol
CEBPA
Type
protein-coding
Description
CCAAT enhancer binding protein alpha
Entrez Gene ID
1050
Genome
hg19
Position
chr19:33,790,840-33,793,440
Genome
hg38
Position
chr19:33,299,934-33,302,534
MIM
116897 OMIM
HGNC
HGNC:1833 HGNC
Ensembl
ENSG00000245848 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 76
Likely pathogenic 0 44
Benign 0 22
Likely benign 0 556
Conflicting classifications of pathogenicity 0 26
not provided 59 12
Uncertain significance 8 1,198
Ranking
ClinVar
0
0
264
1,578
38
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 :
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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 C/EBP-alpha
SYNONYM CEBP
MIM 116897 OMIM
HGNC HGNC:1833 HGNC
Ensembl ENSG00000245848 Ensembl
AllianceGenome HGNC:1833
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000498907.3 hg38 chr19 33,299,934 33,302,534 2,601
ENST00000498907.3 hg19 chr19 33,790,840 33,793,440 2,601
KeyValue
strand-
start33,790,839
VogelsteinTSG
Gene SymbolCEBPA
Entrez GeneId1,050
Chr Band19q13.1
end33,793,469
chrchr19
NameCCAAT/enhancer binding protein (C/EBP), alpha
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