Pathogenicity: Alzheimer's Disease : Pathogenic, Myoclonus : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Myoclonus
Reference Assembly: GRCh37 (105)
Position: Chr14:73659551 T>G
dbSNP ID: rs63750634
Mutation Type: Point, Missense
Codon Change: TTG to GTG
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7
Last Updated: 21 Feb 2019
No Available References
- Furuya H, Yasuda M, Terasawa KJ, Tanaka K, Murai H, Kira J, Ohyagi Y. A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion. J Neurol Sci. 2003 May 15;209(1-2):75-7. PubMed.
Other mutations at this position
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