DEFA3 defensin alpha 3

Information
Symbol
DEFA3
Type
protein-coding
Description
defensin alpha 3
Entrez Gene ID
1668
Genome
hg19
Position
chr8:6,873,391-6,875,819
Genome
hg38
Position
chr8:7,015,869-7,018,297
MIM
604522 OMIM
HGNC
HGNC:2762 HGNC
Ensembl
ENSG00000239839 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 1 0
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
16
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 DEF3
SYNONYM HNP-3
SYNONYM HNP3
SYNONYM HP-3
SYNONYM HP3
MIM 604522 OMIM
HGNC HGNC:2762 HGNC
Ensembl ENSG00000239839 Ensembl
AllianceGenome HGNC:2762
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000327857.7 hg38 chr8 7,015,869 7,018,297 2,429
ENST00000327857.7 hg19 chr8 6,873,391 6,875,819 2,429
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