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Variant (rsID / SNP)

rs201656540

DPAGT1

rs201656540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPAGT1. Location: chromosome 11, position 118,968,265. 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
11:118968265
Cytoband
11q23.3
HGVS
NM_001382.4(DPAGT1):c.918-4G>A
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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