DEFA4 defensin alpha 4

Information
Symbol
DEFA4
Type
protein-coding
Description
defensin alpha 4
Entrez Gene ID
1669
Genome
hg19
Position
chr8:6,793,342-6,795,828
Genome
hg38
Position
chr8:6,935,820-6,938,306
MIM
601157 OMIM
HGNC
HGNC:2763 HGNC
Ensembl
ENSG00000164821 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 1 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
20
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 DEF4
SYNONYM HNP-4
SYNONYM HP-4
SYNONYM HP4
MIM 601157 OMIM
HGNC HGNC:2763 HGNC
Ensembl ENSG00000164821 Ensembl
AllianceGenome HGNC:2763
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000297435.3 hg38 chr8 6,935,820 6,938,306 2,487
ENST00000297435.3 hg19 chr8 6,793,342 6,795,828 2,487
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