Variant (rsID / SNP)

rs80338702

rs80338702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMM2. Location: chromosome 16, position 8,904,983. 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: 16:8904983
Cytoband: 16p13.2
HGVS: NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)
Allele change: Missense_I132T

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.