Mutations

PSEN1 C263R

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.49972T>C
Genomic Mutation Name (NT1): g.66578T>C
dbSNP ID: rs63750543
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: TGT to CGT

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Familial Alzheimer's chromosome 14 mutations. Nat Med. 1995 Sep;1(9):848. PubMed.

Other mutations at this position

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