Variant (rsID / SNP)
rs1800299
rs1800299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,078,656. Clinical significance in the table: Benign/Likely benign; other.
Reference-table entries
GAABenign
- Clinical significance (as recorded)
- Benign/Likely benign; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78078656
- Cytoband
- 17q25.3
- HGVS
- NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
- Allele change
- Missense_D91N
Associated conditions / phenotypes
Acid alpha-glucosidase, allele 2|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.