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Gene entry

DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Chromosome
11
Cytoband
11q23.3
Variants (rsID)
5

DPAGT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q23.3). Its official name is “dolichyl-phosphate N-acetylglucosaminephosphotransferase 1”. The reference table lists 5 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs1131488Benignsingle nucleotide variantAcute intermittent porphyria|Congenital disorder of glycosylation
  • rs643788Benignsingle nucleotide variantAcute intermittent porphyria|Congenital disorder of glycosylation|DPAGT1-congenital disorder of glycosylation|Congenital myasthenic syndrome 13|DPAGT1-congenital disorder of glycosylation|Congenital myasthenic syndrome 13
  • rs138544311Conflicting interpretationssingle nucleotide variantAcute intermittent porphyria|Congenital myasthenic syndrome 13|DPAGT1-congenital disorder of glycosylation|DPAGT1-congenital disorder of glycosylation
  • rs201656540Conflicting interpretationssingle nucleotide variantDPAGT1-congenital disorder of glycosylation|DPAGT1-congenital disorder of glycosylation|Congenital myasthenic syndrome 13
  • rs28934876Conflicting interpretationssingle nucleotide variantDPAGT1-congenital disorder of glycosylation|Congenital myasthenic syndrome 13|DPAGT1-congenital disorder of glycosylation|Congenital disorder of glycosylation

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.