Variant (rsID / SNP)

rs139228075

rs139228075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPI. Location: chromosome 15, position 75,183,878. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MPIConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:75183878
Cytoband: 15q24.1
HGVS: NM_002435.3(MPI):c.303C>T (p.Leu101=)
Allele change: Synonymous_L81L

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.