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Gene entry

ALG1

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

Chromosome
16
Cytoband
16p13.3
Variants (rsID)
9

ALG1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.3). Its official name is “ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase”. The reference table lists 9 variants (rsID) for this gene.

Clinically classified variants

5 reference-table entries with clinical significance.

  • rs145474820Likely benignsingle nucleotide variantALG1-congenital disorder of glycosylation
  • rs151173406Likely pathogenicsingle nucleotide variantALG1-congenital disorder of glycosylation|Congenital disorder of glycosylation
  • rs121908340Pathogenicsingle nucleotide variantALG1-congenital disorder of glycosylation
  • rs28939378Pathogenicsingle nucleotide variantALG1-congenital disorder of glycosylation|Inborn genetic diseases|Congenital disorder of glycosylation|Finnish congenital nephrotic syndrome|Encephalopathy
  • rs369160589Pathogenicsingle nucleotide variantALG1-congenital disorder of glycosylation|Congenital disorder of glycosylation|Encephalopathy

Other listed variants

Public references

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