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PSEN1 S170del (delTCT)

MUTATIONS PSEN1 73653588_73653590 GRCh37/hg19 TCT--- 73186880_73186882 GRCh38/hg38 TCT--- Exon 6 Coding Unknown, although a variant resulting in S170 deletion (DNA change unknown) resulted in an increased Aβ42/Aβ40 ratio and a decreased Aβ37/42 ratio in cells. Unkn

Robert Mach


University of Pennsylvania
, United States

PSEN2 I120S

MUTATIONS PSEN2 227073241 GRCh37/hg19 T G 226885540 GRCh38/hg38 T G Exon 6 Coding Increased Aβ42 levels moderately without a significant change in the Aβ42/Aβ40 ratio. Unknown. I120S Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informat

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