Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73664756 T>C
dbSNP ID: rs63750543
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: TGT to CGT
No Available References
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- Wasco W, Pettingell WP, Jondro PD, Schmidt SD, Gurubhagavatula S, Rodes L, DiBlasi T, Romano DM, Guenette SY, Kovacs DM. Familial Alzheimer's chromosome 14 mutations. Nat Med. 1995 Sep;1(9):848. PubMed.