SMPD1 sphingomyelin phosphodiesterase 1

Information
Symbol
SMPD1
Type
protein-coding
Description
sphingomyelin phosphodiesterase 1
Entrez Gene ID
6609
Genome
hg19
Position
chr11:6,411,704-6,416,226
Genome
hg38
Position
chr11:6,390,474-6,394,996
MIM
607608 OMIM
HGNC
HGNC:11120 HGNC
Ensembl
ENSG00000166311 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 356
Likely pathogenic 0 396
Benign 0 70
Likely benign 0 742
Conflicting classifications of pathogenicity 0 218
not provided 0 2
Uncertain significance 0 336
Ranking
ClinVar
0
0
396
1,314
44
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 ASM
SYNONYM ASMASE
SYNONYM NPD
MIM 607608 OMIM
HGNC HGNC:11120 HGNC
Ensembl ENSG00000166311 Ensembl
AllianceGenome HGNC:11120
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342245.9 hg38 chr11 6,390,474 6,394,996 4,523
ENST00000527275.5 hg38 chr11 6,390,475 6,394,778 4,304
ENST00000342245.9 hg19 chr11 6,411,704 6,416,226 4,523
ENST00000527275.5 hg19 chr11 6,411,705 6,416,008 4,304
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