Overview

Pathogenicity: Frontotemporal Dementia : Uncertain Significance
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:46010385 G>A
Position: (GRCh37/hg19):Chr17:44087751 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GTC to ATC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 10

Findings

This rare variant was found in a genetic screen of 282 control samples from the human genome diversity panel (Guerreiro et al., 2010). It was identified in one Mozabite individual from North Africa. This individual also carried a rare variant in the progranulin gene (R19W).

Neuropathology

Not applicable.

Biological Effect

Unknown. Predicted in silico to be benign and well-tolerated by PolyPhen and SIFT (Guerreiro et al., 2010).

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References

Paper Citations

1. Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.

Further Reading

No Available Further Reading