Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr17:44087712 G>A
dbSNP ID: rs149280278
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 mutation was detected in a study of people of Spanish descent (Jin et al., 2012). It was detected in two out of 176 people with Alzheimer's disease and absent in 534 controls. The two individuals with AD are described as having sporadic early onset AD (onset at 64.5 years) and familial late-onset AD (onset at 70.5 years). Further clinical information was not reported.

Neuropathology

Unknown.

Biological Effect

Unknown.

Comments

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References

Paper Citations

1. Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A, Ibero-American Alzheimer Disease Genetics Group Researchers, Cruchaga C. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimers Res Ther. 2012 Aug 20;4(4):34. PubMed.

Further Reading

No Available Further Reading