DOC2B double C2 domain beta

Information
Symbol
DOC2B
Type
protein-coding
Description
double C2 domain beta
Entrez Gene ID
8447
Genome
hg19
Position
chr17:6,011-31,441
Genome
hg38
Position
chr17:142,789-181,650
MIM
604568 OMIM
HGNC
HGNC:2986 HGNC
Ensembl
ENSG00000272636 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
24
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
[No Data.]
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
SYNONYM DOC2BL
MIM 604568 OMIM
HGNC HGNC:2986 HGNC
Ensembl ENSG00000272636 Ensembl
AllianceGenome HGNC:2986
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000613549.3 hg38 chr17 142,789 181,650 38,862
ENST00000697390.1 hg38 chr17 142,789 181,650 38,862
ENST00000697390.1 hg19 chr17 6,011 31,441 25,431
ENST00000613549.3 hg19 chr17 6,011 31,441 25,431
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