Mutations

MAPT T30A

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.75830A>G
Genomic Mutation Name (NT1): g.73004A>G
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 1
Mutation Type: Point, Missense
Codon Change: ACC to GCC

Findings

This polymorphism was identified in one individual from the Bantu Setswana population originating from South Africa (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.