Alzheimer disease 1, familial
OMIM:104300Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | APP |
|---|---|
| DNA Change | c.1767_1768insC |
| A.A. Change | |
| Exon/Intron | exon 16 |
| Mutation Type | insertion |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
| Gene Symbol | APP |
|---|---|
| DNA Change | c.1764_1765insC |
| A.A. Change | |
| Exon/Intron | exon 16 |
| Mutation Type | insertion |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
| Gene Symbol | APP |
|---|---|
| DNA Change | 27270075A>G |
| A.A. Change | |
| Exon/Intron | intron 16 |
| Mutation Type | substitution |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
| Gene Symbol | APP |
|---|---|
| DNA Change | c.1886_1887insC |
| A.A. Change | |
| Exon/Intron | exon 17 |
| Mutation Type | insertion |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
| Gene Symbol | APP |
|---|---|
| DNA Change | c.1968delT |
| A.A. Change | |
| Exon/Intron | exon 17 |
| Mutation Type | deletion |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
| Gene Symbol | APP |
|---|---|
| DNA Change | c.1881_1882insG |
| A.A. Change | |
| Exon/Intron | exon 17 |
| Mutation Type | insertion |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
| Gene Symbol | APP |
|---|---|
| DNA Change | c.1932+2delT |
| A.A. Change | |
| Exon/Intron | exon 17 |
| Mutation Type | deletion |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
| Gene Symbol | APP |
|---|---|
| DNA Change | 27264009insT |
| A.A. Change | |
| Exon/Intron | intron 17 |
| Mutation Type | insertion |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
| Gene Symbol | APP |
|---|---|
| DNA Change | 27264240delT |
| A.A. Change | |
| Exon/Intron | intron 17 |
| Mutation Type | deletion |
| Reference | El Kadmiri N, Zaid N, Hachem A, Zaid Y, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease. J Mol Neurosci. 2014 Jun;53(2):189-95. |
Variant not named according to HGVS recommendations