Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr21:27394285 G>A
dbSNP ID: rs147485129
Mutation Type: Point, Missense
Codon Change: GAG to AAG
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 6
This variant was detected in an individual with apparently sporadic AD (Frigerio et al., 2015). There was no family history of dementia. Other than a diagnosis of AD, clinical details related to this individual were not reported.
Unknown. In silico, the E246K variant was predicted to be possibly damaging by PolyPhen2.
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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