SVSaudiVarKBSaudi Variant Knowledge Base
Research release · QC validated
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Gene profile

DPAGT1

HGNC:2995 · SaudiVarKB evidence summary derived from retained literature mentions.

2Gene mentions
2Publications
2Linked variants
2Associated phenotypes

Associated phenotypes

Co-mentioned in DPAGT1 publications
PhenotypeIdentifierArticlesMentions
epilepsyHP:000125011
developmental delayHP:000126311

Linked variants

Variants normalized to DPAGT1
VariantHGVS / rsIDArticlesMentions
c.710G>Tc.710G>T11
c.858C>Ac.858C>A11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Not specified——1
Not specified—181

Supporting publications

2 records
  1. 2026Phenotypic Diversity in Pediatric Congenital Myasthenic Syndrome: Insights from CHRNE and DPAGT1 Variants.Neurology internationalPubMed ↗
  2. 2012Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.JIMD reportsPubMed ↗
Data & methodsCitation & contactSystem status
Developed by Dr Babajan Banaganapalli. For full data access, contact bioinfo.bb@gmail.com.
SaudiVarKB is a research resource and is not intended for clinical diagnosis or treatment decisions.