DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory

Information
Symbol
DPM3
Type
protein-coding
Description
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Entrez Gene ID
54344
Genome
hg19
Position
chr1:155,112,367-155,112,883
Genome
hg38
Position
chr1:155,139,891-155,140,407
MIM
605951 OMIM
HGNC
HGNC:3007 HGNC
Ensembl
ENSG00000179085 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 4
Benign 0 4
Likely benign 0 28
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
16
96
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
[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 CDG1O
SYNONYM MDDGB15
SYNONYM MDDGC15
MIM 605951 OMIM
HGNC HGNC:3007 HGNC
Ensembl ENSG00000179085 Ensembl
AllianceGenome HGNC:3007
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368400.5 hg38 chr1 155,139,891 155,140,531 641
ENST00000341298.3 hg38 chr1 155,139,891 155,140,595 705
ENST00000368399.1 hg38 chr1 155,139,891 155,140,407 517
ENST00000368399.1 hg19 chr1 155,112,367 155,112,883 517
ENST00000368400.5 hg19 chr1 155,112,367 155,113,007 641
ENST00000341298.3 hg19 chr1 155,112,367 155,113,071 705
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