DEFB114 defensin beta 114

Information
Symbol
DEFB114
Type
protein-coding
Description
defensin beta 114
Entrez Gene ID
245928
Genome
hg19
Position
chr6:49,927,962-49,931,877
Genome
hg38
Position
chr6:49,960,249-49,964,164
MIM
615243 OMIM
HGNC
HGNC:18095 HGNC
Ensembl
ENSG00000177684 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
14
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
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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 :
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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 DEFB-14
SYNONYM DEFB14
MIM 615243 OMIM
HGNC HGNC:18095 HGNC
Ensembl ENSG00000177684 Ensembl
AllianceGenome HGNC:18095
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000322066.4 hg38 chr6 49,960,249 49,964,164 3,916
ENST00000322066.4 hg19 chr6 49,927,962 49,931,877 3,916
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