Variant (rsID / SNP)

rs201815588

rs201815588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPI. Location: chromosome 15, position 75,189,977. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MPIUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:75189977
Cytoband: 15q24.1
HGVS: NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)
Allele change: Missense_G373A

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.