Variant (rsID / SNP)
rs199748889
rs199748889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,083,804. Clinical significance in the table: Uncertain significance.
Reference-table entries
GAAUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78083804
- Cytoband
- 17q25.3
- HGVS
- NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
- Allele change
- Missense_R463W
Associated conditions / phenotypes
Glycogen storage disease, type II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.