DEFB4A defensin beta 4A

Information
Symbol
DEFB4A
Type
protein-coding
Description
defensin beta 4A
Entrez Gene ID
1673
Genome
hg19
Position
chr8:7,752,199-7,754,238
Genome
hg38
Position
chr8:7,894,677-7,896,716
MIM
602215 OMIM
HGNC
HGNC:2767 HGNC
Ensembl
ENSG00000171711 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
not provided 1 0
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
8
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 BD-2
SYNONYM DEFB-2
SYNONYM DEFB102
SYNONYM DEFB2
SYNONYM DEFB4
SYNONYM HBD-2
SYNONYM SAP1
MIM 602215 OMIM
HGNC HGNC:2767 HGNC
Ensembl ENSG00000171711 Ensembl
AllianceGenome HGNC:2767
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000302247.3 hg38 chr8 7,894,677 7,896,716 2,040
ENST00000302247.3 hg19 chr8 7,752,199 7,754,238 2,040
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