Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73653582 ATT>---
dbSNP ID: rs63750879
Genomic Region: Exon 6
Mutation Type: Deletion
Codon Change: ATT.ATA to ATA
This mutation involves a trinucleotide deletion resulting in the in-frame deletion of one amino acid (I).
No Available References
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- Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 Jan 28;60(2):235-9. PubMed.