The DDOST gene homepage

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
General information
Gene symbol DDOST
Gene name dolichyl-diphosphooligosaccharide--protein glycosyltransferase
Chromosome 1
Chromosomal band p36.1
Imprinted Unknown
Genomic reference NG_032064.1
Transcript reference NM_005216.4
Exon/intron information NM_005216.4 exon/intron table
Associated with diseases CDG1R
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Gert Matthijs
Total number of public variants reported 34
Unique public DNA variants reported 28
Individuals with public variants 19
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created February 10, 2010
Date last updated April 16, 2023
Version DDOST:230416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005216.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/DDOST
External URL Congenital Disorder of Glycosylation pages
HGNC 2728
Entrez Gene 1650
PubMed articles DDOST
OMIM - Gene 602202
OMIM - Diseases CDG1R (glycosylation, congenital disorder of, type Ir (CDG-1R))
HGMD DDOST
GeneCards DDOST
GeneTests DDOST
Orphanet DDOST


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006205 1 dolichyl-diphosphooligosaccharide--protein glycosyltransferase NM_005216.4 NP_005207.2 34


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