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Variant (rsID / SNP)

rs80338703

PMM2

rs80338703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMM2. Location: chromosome 16, position 8,905,003. 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
16:8905003
Cytoband
16p13.2
HGVS
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
Allele change
Missense_E139K

Associated conditions / phenotypes

PMM2-congenital disorder of glycosylation|Congenital cerebellar hypoplasia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.