Variant (rsID / SNP)
rs63750066
rs63750066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APP. Location: chromosome 21, position 27,264,108. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
APPConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:27264108
- Cytoband
- 21q21.3
- HGVS
- NM_000484.4(APP):c.2137G>A (p.Ala713Thr)
- Allele change
- Missense_A657T
Associated conditions / phenotypes
Alzheimer disease type 1|Alzheimer disease|Primary degenerative dementia of the Alzheimer type, presenile onset|Cerebral amyloid angiopathy, APP-related
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.