Variant (rsID / SNP)

rs104894534

rs104894534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMM2. Location: chromosome 16, position 8,895,720. 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: 16:8895720
Cytoband: 16p13.2
HGVS: NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
Allele change: Missense_V44A

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.