Mutations

MAPT L266L

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.110046G>A
Genomic Mutation Name (NT1): g.107220G>A
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 9
Mutation Type: Point, Silent
Codon Change: CTG to CTA

Findings

This synonymous change was identified in one individual originating from Pakistan (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

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.

Other mutations at this position

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