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329930 RESULTS

PSEN1 F105C

MUTATIONS PSEN1 73637731 GRCh37/hg19 T G Exon 4 Point, Missense Coding Decreased Aβ (37 + 38 + 40) / (42 + 43) ratio. Unknown; neuroimaging showed enlarged ventricles and atrophy in the hippocampus and frontotemporal regions. F105C Alzheimer's Disease: Pathoge

PSEN1 L248P

MUTATIONS PSEN1 73659546 GRCh37/hg19 T C Exon 7 Point, Missense Coding   Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells. Unknown. L248P Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a family from mainlan

PSEN1 I168del (TTAdel)

MUTATIONS PSEN1 73653580_73653582 GRCh37/hg19 TTA--- Exon 6 Deletion Coding Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (nucleotide change unspecified). Unknown. I168del (TTAdel) Alzheimer's Disease: PathogenicAlzheimer'

PSEN1 A434T

MUTATIONS PSEN1 73685893 GRCh37/hg19 G A Exon 12 Point, Missense Coding Unknown; predicted damaging in silico. Unknown. A434T Alzheimer's Disease: PathogenicAlzheimer's Disease, Parkinsonism This mutation was detected in a Chinese family with a history of

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