ACER1 alkaline ceramidase 1

Information
Symbol
ACER1
Type
protein-coding
Description
alkaline ceramidase 1
Entrez Gene ID
125981
Genome
hg19
Position
chr19:6,306,153-6,333,623
Genome
hg38
Position
chr19:6,306,142-6,333,612
MIM
613491 OMIM
HGNC
HGNC:18356 HGNC
Ensembl
ENSG00000167769 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
34
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
[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 ALKCDase1
SYNONYM ASAH3
MIM 613491 OMIM
HGNC HGNC:18356 HGNC
Ensembl ENSG00000167769 Ensembl
AllianceGenome HGNC:18356
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000301452.5 hg38 chr19 6,306,142 6,333,612 27,471
ENST00000301452.5 hg19 chr19 6,306,153 6,333,623 27,471
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