Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659495 C>T
dbSNP ID: rs63750799
Mutation Type: Point, Missense
Codon Change: GCC to GTC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7
This mutation may have a relatively mild effect because the substitution is semi-conserved.
Last Updated: 21 Feb 2019
No Available References
- Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet. 1998 Jan;7(1):43-51. PubMed.
Other mutations at this position
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