Variant (rsID / SNP)
rs1800312
rs1800312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,090,815. Clinical significance in the table: Pathogenic.
Reference-table entries
GAAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78090815
- Cytoband
- 17q25.3
- HGVS
- NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
- Allele change
- Missense_W746C
Associated conditions / phenotypes
Glycogen storage disease, type II|Glycogen storage disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.