Variant (rsID / SNP)
rs764583466
rs764583466 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,084,519. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GAAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 17:78084519
- Cytoband
- 17q25.3
- HGVS
- NM_000152.5(GAA):c.1438-7_1438-5del
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.