Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73640373 G>C
dbSNP ID: rs63750391
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ATG to ATC
No Available References
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- Gustafson L, Brun A, Englund E, Hagnell O, Nilsson K, Stensmyr M, Ohlin AK, Abrahamson M. A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease. Hum Genet. 1998 Mar;102(3):253-7. PubMed.