DEFA1 defensin alpha 1

Information
Symbol
DEFA1
Type
protein-coding
Description
defensin alpha 1
Entrez Gene ID
1667
Genome
hg19
Position
chr8:6,835,171-6,837,614
Genome
hg38
Position
chr8:6,977,649-6,980,092
MIM
125220 OMIM
HGNC
HGNC:2761 HGNC
Ensembl
ENSG00000206047 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
not provided 1 0
Ranking
ClinVar
0
0
0
0
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 DEF1
SYNONYM DEFA2
SYNONYM HNP-1
SYNONYM HP-1
SYNONYM HP1
SYNONYM MRS
MIM 125220 OMIM
HGNC HGNC:2761 HGNC
Ensembl ENSG00000206047 Ensembl
AllianceGenome HGNC:2761
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000382692.3 hg38 chr8 6,977,649 6,980,092 2,444
ENST00000382692.3 hg19 chr8 6,835,171 6,837,614 2,444
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