Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659500 A>T
dbSNP ID: rs63751287
Mutation Type: Point, Missense
Codon Change: ATG to TTG
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7
No Available References
- Mendez MF, McMurtray A. Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am J Alzheimers Dis Other Demen. 2006 Aug-Sep;21(4):281-6. PubMed.
Other mutations at this position
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