DEFA6 defensin alpha 6

Information
Symbol
DEFA6
Type
protein-coding
Description
defensin alpha 6
Entrez Gene ID
1671
Genome
hg19
Position
chr8:6,782,219-6,783,598
Genome
hg38
Position
chr8:6,924,697-6,926,076
MIM
600471 OMIM
HGNC
HGNC:2765 HGNC
Ensembl
ENSG00000164822 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 1 0
Uncertain significance 0 12
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 DEF6
SYNONYM HD-6
MIM 600471 OMIM
HGNC HGNC:2765 HGNC
Ensembl ENSG00000164822 Ensembl
AllianceGenome HGNC:2765
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000297436.3 hg38 chr8 6,924,697 6,926,076 1,380
ENST00000297436.3 hg19 chr8 6,782,219 6,783,598 1,380
Genome browser