Gene entry
MPDU1
mannose-P-dolichol utilization defect 1
- Chromosome
- 17
- Cytoband
- 17p13.1
- Variants (rsID)
- 9
MPDU1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.1). Its official name is “mannose-P-dolichol utilization defect 1”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs10852891Benignsingle nucleotide variantMPDU1-congenital disorder of glycosylation
- rs137983973Benignsingle nucleotide variantMPDU1-congenital disorder of glycosylation
- rs4227Benignsingle nucleotide variantMPDU1-congenital disorder of glycosylation
- rs104894586Conflicting interpretationssingle nucleotide variantMPDU1-congenital disorder of glycosylation
- rs148935720Conflicting interpretationssingle nucleotide variantMPDU1-congenital disorder of glycosylation
- rs370389790Conflicting interpretationssingle nucleotide variantCongenital disorder of glycosylation
- rs79286384Conflicting interpretationssingle nucleotide variantMPDU1-congenital disorder of glycosylation
- rs104894589Pathogenicsingle nucleotide variantMPDU1-congenital disorder of glycosylation
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.