Variant (rsID / SNP)

rs80338704

rs80338704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMM2. Location: chromosome 16, position 8,906,887. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PMM2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:8906887
Cytoband: 16p13.2
HGVS: NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
Allele change: Missense_D188G

Associated conditions / phenotypes

PMM2-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.