Variant (rsID / SNP)
rs201958741
rs201958741 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBE1. Location: chromosome 3, position 81,627,150. 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
- 3:81627150
- Cytoband
- 3p12.2
- HGVS
- NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
- Allele change
- Missense_R515H
Associated conditions / phenotypes
Adult polyglucosan body neuropathy|Glycogen storage disease IV, classic hepatic|Glycogen storage disease, type IV|Glycogen storage disease, type IV|Adult polyglucosan body disease|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.