DEF6 DEF6 guanine nucleotide exchange factor

Information
Symbol
DEF6
Type
protein-coding
Description
DEF6 guanine nucleotide exchange factor
Entrez Gene ID
50619
Genome
hg19
Position
chr6:35,265,595-35,289,548
Genome
hg38
Position
chr6:35,297,818-35,321,771
MIM
610094 OMIM
HGNC
HGNC:2760 HGNC
Ensembl
ENSG00000023892 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 36
Likely benign 0 310
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 244
Ranking
ClinVar
0
0
36
556
4
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
Category :
Search word :
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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 :
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 IBP
SYNONYM IMD87
SYNONYM SLAT
SYNONYM SWAP70L
MIM 610094 OMIM
HGNC HGNC:2760 HGNC
Ensembl ENSG00000023892 Ensembl
AllianceGenome HGNC:2760
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000444278.3 hg38 chr6 35,297,842 35,321,771 23,930
ENST00000316637.7 hg38 chr6 35,297,818 35,321,771 23,954
ENST00000316637.7 hg19 chr6 35,265,595 35,289,548 23,954
ENST00000444278.3 hg19 chr6 35,265,619 35,289,548 23,930
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