Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr17:44051799 C>T
dbSNP ID: NA
Mutation Type: Point, Missense
Codon Change: GCC to GTC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 3
This variant was detected in an individual with apparently sporadic AD (Sala 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.
The pathogenicity of this variant is unclear; it may be simply a rare polymorphism. PolyPhen-2 predicts that it is benign in silico.
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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