Variant (rsID / SNP)

rs80338700

rs80338700 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMM2. Location: chromosome 16, position 8,900,255. 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: 16:8900255
Cytoband: 16p13.2
HGVS: NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
Allele change: Missense_P113L

Associated conditions / phenotypes

PMM2-congenital disorder of glycosylation|6 conditions

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.