CREB3L1 cAMP responsive element binding protein 3 like 1

Information
Symbol
CREB3L1
Type
protein-coding
Description
cAMP responsive element binding protein 3 like 1
Entrez Gene ID
90993
Genome
hg19
Position
chr11:46,299,213-46,342,959
Genome
hg38
Position
chr11:46,277,662-46,321,409
MIM
616215 OMIM
HGNC
HGNC:18856 HGNC
Ensembl
ENSG00000157613 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Benign 0 76
Likely benign 0 238
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 218
Ranking
ClinVar
0
0
78
448
4
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
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 C16DELp11.2
SYNONYM DEL16p11.2
SYNONYM OASIS
SYNONYM OI16
MIM 616215 OMIM
HGNC HGNC:18856 HGNC
Ensembl ENSG00000157613 Ensembl
AllianceGenome HGNC:18856
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000621158.5 hg38 chr11 46,277,662 46,321,409 43,748
ENST00000621158.5 hg19 chr11 46,299,213 46,342,959 43,747
KeyValue
strand+
start46,299,188
Gene SymbolCREB3L1
Entrez GeneId90,993
Chr Band11p11.2
end46,342,971
chrchr11
NamecAMP responsive element binding protein 3-like 1
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