DEFB1 defensin beta 1

Information
Symbol
DEFB1
Type
protein-coding
Description
defensin beta 1
Entrez Gene ID
1672
Genome
hg19
Position
chr8:6,728,114-6,735,458
Genome
hg38
Position
chr8:6,870,592-6,877,936
MIM
602056 OMIM
HGNC
HGNC:2766 HGNC
Ensembl
ENSG00000164825 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 1 0
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
22
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 :
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 BD1
SYNONYM DEFB-1
SYNONYM DEFB101
SYNONYM HBD1
MIM 602056 OMIM
HGNC HGNC:2766 HGNC
Ensembl ENSG00000164825 Ensembl
AllianceGenome HGNC:2766
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000297439.4 hg38 chr8 6,870,592 6,877,936 7,345
ENST00000297439.4 hg19 chr8 6,728,114 6,735,458 7,345
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