Mutations

MAPT T30A

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr17:44039791 A>G
dbSNP ID: NA
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 in South Africa (Guerreiro et al., 2010).

Neuropathology

Not applicable.

Biological Effect

Unknown.

Comments

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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

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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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