DEGS1 delta 4-desaturase, sphingolipid 1

Information
Symbol
DEGS1
Type
protein-coding
Description
delta 4-desaturase, sphingolipid 1
Entrez Gene ID
8560
Genome
hg19
Position
chr1:224,370,942-224,381,143
Genome
hg38
Position
chr1:224,183,240-224,193,441
MIM
615843 OMIM
HGNC
HGNC:13709 HGNC
Ensembl
ENSG00000143753 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 22
Benign 0 18
Likely benign 0 30
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 58
Ranking
ClinVar
0
0
28
106
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 :
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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 DEGS
SYNONYM DEGS-1
SYNONYM DES1
SYNONYM Des-1
SYNONYM FADS7
SYNONYM HLD18
SYNONYM MIG15
SYNONYM MLD
MIM 615843 OMIM
HGNC HGNC:13709 HGNC
Ensembl ENSG00000143753 Ensembl
AllianceGenome HGNC:13709
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323699.9 hg38 chr1 224,183,240 224,193,441 10,202
ENST00000323699.9 hg19 chr1 224,370,942 224,381,143 10,202
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