APP dupAPP[F019] Mutation Details

(Table Legend)

Gene

APP

Name

(relative to Met1 in D87675.1)
(relative to nt1 in NG_007376.1)

Alias

dupAPP[F019]

Description

Chromosome 21q genomic duplication of unknown size containing APP and including MRPL39, JAM2, ATP5J, GABPA, CYYR1, ADAMTS1, ADAMTS5, ZNF294, USP16, CCT8 and BACH1

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

Region

Complete gene

Complete CDS

Complete protein

Phenotype

Alzheimer Disease / CAA
Mean of Mean Onset Ages: 45.0y
Mean of Mean Ages at Death: 53.0y

Frequency

1 Family

Function

No Functional data available

Citations

Rovelet-Lecrux A, Nature Genetics 38: 24-26, 2006

Citation Details

Added: January 12, 2006

ID: 263