Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr21:27347406 G>T
dbSNP ID: rs143794560
Mutation Type: Point, Missense
Codon Change: GCT to TCT
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 11
This variant was detected in a control individual in a study assessing 72 AD cases and 58 controls (Frigerio et al., 2015). There was no family history of dementia. The age of the mutation carrier was not reported, nor were details regarding his or her cognitive health. Classification as a control was based on a lack of significant AD pathology in the brain. This is most likely a rare polymorphism.
Unknown. In silico, this variant is predicted benign by PolyPhen-2.
No Available Further Reading
- Sala Frigerio C, Lau P, Troakes C, Deramecourt V, Gele P, Van Loo P, Voet T, De Strooper B. On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients. Alzheimers Dement. 2015 Apr 29; PubMed.
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