Mutations

MAPT H14H

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Genome Build: 105
Position: Chr17:44039745 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 1
Mutation Type: Point, Silent
Codon Change: CAC to CAT

Findings

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

Neuropathology

Not applicable.

Biological Effect

Unknown.

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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

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

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

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