Daniela Troncoso
University of Texas at A&M KingsvilleMcAllen, United States
330988 RESULTS
University of Texas at A&M KingsvilleMcAllen, United States
Allen Institute for Brain ScienceSeattle, United States
MUTATIONS PSEN2 227071448 GRCh37/hg19 rs150400387 C T 1838C> T 18176C> T Exon 5 Point Coding Reduced levels of CSF Aβ43 and Aβ42, and increased Aβ40; decreased Aβ42/Aβ40 ratio in one carrier. Unknown. R62C Alzheimer's Disease: BenignAlzheimer's Dis
Stanford University School of MedicineUnited States
MUTATIONS PSEN2 227069708 GRCh37/hg19 G A 100G> A 16436G> A Exon 4 Point Coding Unchanged Aβ42/Aβ40 ratio. Unknown, but in one case, brain MRI showed multiple ischemic foci of the bilateral frontal-parietal lobe and brain atrophy. G34S Alzheimer's Diseas
MUTATIONS PSEN2 227069694 GRCh37/hg19 G A 86G> A 16422G> A Exon 4 Point Coding Unknown. Not applicable. R29H Alzheimer's Disease: Uncertain SignificanceAlzheimer's Disease This variant was originally identified in an African individual from the Mand
United States
MUTATIONS APP 27269939 GRCh37/hg19 rs63751263 G T 27269938 GRCh37/hg19 rs63750445 A C 269498G> T;269499A> C 278194G> T;278195A Exon 16 Point, Double Coding Increased BACE1 cleavage resulting in elevated total Aβ, Aβ43, Aβ42, Aβ40, β-CTF, and multiple short