Variant (rsID / SNP)
rs140304729
rs140304729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APP. Location: chromosome 21, position 27,284,167. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
APPBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:27284167
- Cytoband
- 21q21.3
- HGVS
- NM_000484.4(APP):c.1795G>A (p.Glu599Lys)
- Allele change
- Missense_E543K
Associated conditions / phenotypes
Vascular dementia|Alzheimer disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.