Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs104894489

MPI

rs104894489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPI. Location: chromosome 15, position 75,185,647. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MPIPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:75185647
Cytoband
15q24.1
HGVS
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
Allele change
Missense_R199Q

Associated conditions / phenotypes

MPI-congenital disorder of glycosylation

Public references

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