Variant (rsID / SNP)
rs192044702
rs192044702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GBE1. Location: chromosome 3, position 81,698,005. Clinical significance in the table: Pathogenic.
Reference-table entries
GBE1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:81698005
- Cytoband
- 3p12.2
- HGVS
- NM_000158.4(GBE1):c.691+2T>C
- Allele change
- Silent
Associated conditions / phenotypes
Glycogen storage disease, type IV|GBE1-Related Disorders|Adult polyglucosan body disease|Glycogen storage disease, type IV|Glycogen storage disease, type IV|Glycogen storage disease IV, classic hepatic|Glycogen storage disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.