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Variant (rsID / SNP)

rs2228389

GBE1

rs2228389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBE1. Location: chromosome 3, position 81,627,175. Clinical significance in the table: Benign.

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Reference-table entries

GBE1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
3:81627175
Cytoband
3p12.2
HGVS
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala)
Allele change
Missense_T507A

Associated conditions / phenotypes

Glycogen storage disease, type IV|Adult polyglucosan body disease|Glycogen storage disease IV, classic hepatic|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.