Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr14:73653604 T>C
dbSNP ID: rs63750771
Genomic Region: Exon 6
Mutation Type: Point, Missense
Codon Change: TTC to TCC
No Available References
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.
- Colacicco AM, Panza F, Basile AM, Solfrizzi V, Capurso C, D'Introno A, Torres F, Capurso S, Cozza S, Flora R, Capurso A. F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease. Eur Neurol. 2002;47(4):209-13. PubMed.