CREB3L3 cAMP responsive element binding protein 3 like 3

Information
Symbol
CREB3L3
Type
protein-coding
Description
cAMP responsive element binding protein 3 like 3
Entrez Gene ID
84699
Genome
hg19
Position
chr19:4,153,628-4,173,051
Genome
hg38
Position
chr19:4,153,631-4,173,054
MIM
611998 OMIM
HGNC
HGNC:18855 HGNC
Ensembl
ENSG00000060566 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 12
Benign 0 82
Likely benign 0 118
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 176
Ranking
ClinVar
0
0
40
348
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 CREB-H
SYNONYM CREBH
SYNONYM HYST1481
SYNONYM HYTG2
MIM 611998 OMIM
HGNC HGNC:18855 HGNC
Ensembl ENSG00000060566 Ensembl
AllianceGenome HGNC:18855
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000078445.7 hg38 chr19 4,153,631 4,173,054 19,424
ENST00000602147.1 hg38 chr19 4,153,668 4,171,992 18,325
ENST00000595923.5 hg38 chr19 4,153,640 4,171,969 18,330
ENST00000602257.5 hg38 chr19 4,153,668 4,171,984 18,317
ENST00000078445.7 hg19 chr19 4,153,628 4,173,051 19,424
ENST00000595923.5 hg19 chr19 4,153,637 4,171,966 18,330
ENST00000602257.5 hg19 chr19 4,153,665 4,171,981 18,317
ENST00000602147.1 hg19 chr19 4,153,665 4,171,989 18,325
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