Mutations

APP G708G

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr21:27264121 C>T
dbSNP ID: rs148888161
Coding/Non-Coding: Coding
Mutation Type: Point, Silent
Codon Change: GGC to GGT
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 17

Findings

This nucleotide variant, which is silent at the protein level, was present in two out of 12 investigated Alzheimer's disease patients, in one out of 60 non-AD patients, and in one out of 30 healthy individuals (Balbín et al., 1992).

Neuropathology

Not applicable.

Biological Effect

Unknown.

Comments

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References

Paper Citations

  1. . A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene. Hum Genet. 1992 Jul;89(5):580-2. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene. Hum Genet. 1992 Jul;89(5):580-2. PubMed.

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