Variant (rsID / SNP)

rs28928906

rs28928906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPI. Location: chromosome 15, position 75,189,391. Clinical significance in the table: Pathogenic.

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Reference-table entries

MPIPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:75189391
Cytoband: 15q24.1
HGVS: NM_002435.3(MPI):c.884G>A (p.Arg295His)
Allele change: Missense_R275H

Associated conditions / phenotypes

MPI-congenital disorder of glycosylation

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.