Variant (rsID / SNP)
rs1800315
rs1800315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,092,585. Clinical significance in the table: Benign.
Reference-table entries
GAABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78092585
- Cytoband
- 17q25.3
- HGVS
- NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
- Allele change
- Missense_T927I
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.