Variant (rsID / SNP)

rs79286384

rs79286384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPDU1. Location: chromosome 17, position 7,490,221. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MPDU1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:7490221
Cytoband: 17p13.1
HGVS: NM_004870.4(MPDU1):c.393C>T (p.Val131=)
Allele change: Silent

Associated conditions / phenotypes

MPDU1-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.