Variant (rsID / SNP)

rs28763902

rs28763902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBE1. Location: chromosome 3, position 81,692,085. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GBE1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:81692085
Cytoband: 3p12.2
HGVS: NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
Allele change: Missense_G280D

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

dbSNP
ClinVar
Ensembl
gnomAD

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