CREBL2 cAMP responsive element binding protein like 2

Information
Symbol
CREBL2
Type
protein-coding
Description
cAMP responsive element binding protein like 2
Entrez Gene ID
1389
Genome
hg19
Position
chr12:12,764,810-12,798,042
Genome
hg38
Position
chr12:12,611,876-12,645,108
MIM
603476 OMIM
HGNC
HGNC:2350 HGNC
Ensembl
ENSG00000111269 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
not provided 1 0
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
14
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 :
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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
MIM 603476 OMIM
HGNC HGNC:2350 HGNC
Ensembl ENSG00000111269 Ensembl
AllianceGenome HGNC:2350
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000228865.3 hg38 chr12 12,611,876 12,645,108 33,233
ENST00000228865.3 hg19 chr12 12,764,810 12,798,042 33,233
KeyValue
strand+
UniProtTSG
start12,764,766
Gene SymbolCREBL2
Entrez GeneId1,389
Chr Band12p13
end12,798,041
chrchr12
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