Mutations

MAPT Y18Y

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.75796C>T
Genomic Mutation Name (NT1): g.72970C>T
dbSNP ID: rs63750811
Coding/Non-Coding: Coding
Genomic Region: Exon 1
Mutation Type: Point, Silent
Codon Change: TAC to TAT

Findings

This synonymous change was identified in one Chinese individual from the Oroqen population (Guerreiro et al., 2010).

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References

Paper Citations

  1. . A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol. 1999 Aug;46(2):243-8. PubMed.
  2. . A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.