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Variant (rsID / SNP)

rs137852893

GBE1

rs137852893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBE1. Location: chromosome 3, position 81,692,140. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GBE1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:81692140
Cytoband
3p12.2
HGVS
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
Allele change
Missense_R262C

Associated conditions / phenotypes

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form|Adult polyglucosan body disease|Glycogen storage disease, type IV

Public references

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