Variant (rsID / SNP)
rs80338673
rs80338673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBE1. Location: chromosome 3, position 81,627,123. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GBE1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:81627123
- Cytoband
- 3p12.2
- HGVS
- NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
- Allele change
- Missense_R524Q
Associated conditions / phenotypes
Glycogen storage disease IV, combined hepatic and myopathic|Glycogen storage disease, type IV|Adult polyglucosan body neuropathy|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.