Mutations

MAPT IVS10+25 C>T

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic, Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44087793 C>T
dbSNP ID: rs63750117
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Codon Change: C to T
Genomic Region: Intron 10

Findings

This variant was identified in one out of 101 individuals with early onset Alzheimer's disease (onset prior to age 65) and one out of 117 controls. It is thought to be a rare polymorphism but not disease-causing (Roks et al., 1999).

Neuropathology

Not applicable.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Mutation screening of the tau gene in patients with early-onset Alzheimer's disease. Neurosci Lett. 1999 Dec 24;277(2):137-9. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . Mutation screening of the tau gene in patients with early-onset Alzheimer's disease. Neurosci Lett. 1999 Dec 24;277(2):137-9. PubMed.

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