DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic

Information
Symbol
DPM1
Type
protein-coding
Description
dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Entrez Gene ID
8813
Genome
hg19
Position
chr20:49,551,482-49,575,069
Genome
hg38
Position
chr20:50,934,945-50,958,532
MIM
603503 OMIM
HGNC
HGNC:3005 HGNC
Ensembl
ENSG00000000419 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 12
Benign 0 34
Likely benign 0 226
Conflicting classifications of pathogenicity 0 28
not provided 1 0
Uncertain significance 0 292
Ranking
ClinVar
0
0
82
484
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CDGIE
SYNONYM MPDS
MIM 603503 OMIM
HGNC HGNC:3005 HGNC
Ensembl ENSG00000000419 Ensembl
AllianceGenome HGNC:3005
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000683466.1 hg38 chr20 50,935,020 50,959,140 24,121
ENST00000371582.8 hg38 chr20 50,934,867 50,958,555 23,689
ENST00000371584.9 hg38 chr20 50,934,945 50,958,532 23,588
ENST00000371588.10 hg38 chr20 50,934,870 50,958,532 23,663
ENST00000371582.8 hg19 chr20 49,551,404 49,575,092 23,689
ENST00000371588.10 hg19 chr20 49,551,407 49,575,069 23,663
ENST00000371584.9 hg19 chr20 49,551,482 49,575,069 23,588
ENST00000683466.1 hg19 chr20 49,551,557 49,575,677 24,121
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