Variant (rsID / SNP)

rs80338709

rs80338709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMM2. Location: chromosome 16, position 8,941,663. Clinical significance in the table: Pathogenic.

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Reference-table entries

PMM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:8941663
Cytoband: 16p13.2
HGVS: NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
Allele change: Missense_C241S

Associated conditions / phenotypes

PMM2-congenital disorder of glycosylation|Inborn genetic diseases

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.