APP
Gene name: amyloid beta (A4) precursor proteinOMIM ID: 104760
Chromosome location: 21q21.3
Mutations
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
| Disease/Phenotype | Alzheimer disease 1, familial |
|---|---|
| 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. |
Variant not named according to HGVS recommendations