CERS1 ceramide synthase 1

Information
Symbol
CERS1
Type
protein-coding
Description
ceramide synthase 1
Entrez Gene ID
10715
Genome
hg19
Position
chr19:18,979,354-19,006,967
Genome
hg38
Position
chr19:18,868,545-18,896,158
MIM
606919 OMIM
HGNC
HGNC:14253 HGNC
Ensembl
ENSG00000223802 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 32
Likely pathogenic 0 32
Benign 0 28
Likely benign 0 354
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 440
Ranking
ClinVar
0
0
98
768
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 :
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 EPM8
SYNONYM GDF-1
SYNONYM GDF1
SYNONYM LAG1
SYNONYM LASS1
SYNONYM UOG1
MIM 606919 OMIM
HGNC HGNC:14253 HGNC
Ensembl ENSG00000223802 Ensembl
AllianceGenome HGNC:14253
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000542296.6 hg38 chr19 18,877,911 18,896,727 18,817
ENST00000623882.4 hg38 chr19 18,868,545 18,896,158 27,614
ENST00000429504.6 hg38 chr19 18,877,909 18,896,135 18,227
ENST00000623882.4 hg19 chr19 18,979,354 19,006,967 27,614
ENST00000429504.6 hg19 chr19 18,988,718 19,006,944 18,227
ENST00000542296.6 hg19 chr19 18,988,720 19,007,536 18,817
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