Variant (rsID / SNP)

rs72766381

rs72766381 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMM2. Location: chromosome 16, position 8,943,042. Clinical significance in the table: Likely benign.

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Reference-table entries

PMM2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:8943042
Cytoband: 16p13.2
HGVS: NM_000303.3(PMM2):c.*1360C>T
Allele change: Silent

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.