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482 RESULTS

PSEN1 I162S

MUTATIONS PSEN1 73653565 GRCh37/hg19 rs1898533739 T G 73186857 GRCh38/hg38 T G Exon 6 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 26.0). Unknown. I162S Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed info

PSEN1 F118V

MUTATIONS PSEN1 73640287 GRCh37/hg19 T G 73173579 GRCh38/hg38 T G Exon 5 Coding Increased the Aβ42/Aβ40 ratio due to reduced Aβ40 production in cells. Unknown. F118V Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed information on carrier(s)

PSEN1 F105S

MUTATIONS PSEN1 73171023 GRCh37/hg19 T C 73637731 GRCh38/hg38 T C Exon 4 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 27.1). Unknown. F105S Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This variant was identifie

PSEN1 V97M

MUTATIONS PSEN1 73637706 GRCh37/hg19 rs63750852 G A 73170998 GRCh38/hg38 G A Exon 4 Coding Unknown. V97M Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This variant was identified in France in individual(s) who developed Alzheimer’s disease (AD) (

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