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Variant (rsID / SNP)

rs28934876

DPAGT1

rs28934876 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPAGT1. Location: chromosome 11, position 118,971,106. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DPAGT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:118971106
Cytoband
11q23.3
HGVS
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)
Allele change
Missense_Y170C

Associated conditions / phenotypes

DPAGT1-congenital disorder of glycosylation|Congenital myasthenic syndrome 13|DPAGT1-congenital disorder of glycosylation|Congenital disorder of glycosylation

Public references

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