Mutations

MAPT IVS10+25 C>T

Overview

Pathogenicity: Frontotemporal Dementia : Benign, Alzheimer's Disease : Benign
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44087793 C>T
dbSNP ID: rs63750117
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
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.

Last Updated: 16 Feb 2023

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References

Paper Citations

  1. Roks G, Dermaut B, Heutink P, Julliams A, Backhovens H, Van de Broeck M, Serneels S, Hofman A, Van Broeckhoven C, van Duijn CM, Cruts M. 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. Roks G, Dermaut B, Heutink P, Julliams A, Backhovens H, Van de Broeck M, Serneels S, Hofman A, Van Broeckhoven C, van Duijn CM, Cruts M. 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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