rs63750264
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 7 | Alzheimer's disease mutation |
| (C;G) | 7 | Alzheimer's disease mutation |
| (G;G) | 0 | common in complete genomics |
| (G;T) | 7 | Alzheimer's disease mutation |
| Make rs63750264(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 25891784 |
| Gene | APP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750264 |
| dbSNP (classic) | rs63750264 |
| ClinGen | rs63750264 |
| ebi | rs63750264 |
| HLI | rs63750264 |
| Exac | rs63750264 |
| Gnomad | rs63750264 |
| Varsome | rs63750264 |
| LitVar | rs63750264 |
| Map | rs63750264 |
| PheGenI | rs63750264 |
| Biobank | rs63750264 |
| 1000 genomes | rs63750264 |
| hgdp | rs63750264 |
| ensembl | rs63750264 |
| geneview | rs63750264 |
| scholar | rs63750264 |
| rs63750264 | |
| pharmgkb | rs63750264 |
| gwascentral | rs63750264 |
| openSNP | rs63750264 |
| 23andMe | rs63750264 |
| SNPshot | rs63750264 |
| SNPdbe | rs63750264 |
| MSV3d | rs63750264 |
| GWAS Ctlg | rs63750264 |
| Max Magnitude | 7 |
Located in the APP gene, rs63750264 represents the rare variant site where all three possible single nucleotide mutations are known and considered pathogenic. The c.2149G>T is also known as p.Val717Phe or V717F; the c.2149G>A mutation is also known as p.Val717Ile or V716I; and the c.2149G>C mutation is known as p.Val717Leu or V717L.
All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease and are listed in OMIM and AlzForum.
| ClinVar | |
|---|---|
| Risk | rs63750264(A;A) rs63750264(C;C) rs63750264(T;T) |
| Alt | rs63750264(A;A) rs63750264(C;C) rs63750264(T;T) |
| Reference | Rs63750264(G;G) |
| Significance | Pathogenic |
| Disease | Alzheimer disease Alzheimer's disease not provided |
| Variation | info |
| Gene | APP |
| CLNDBN | Alzheimer disease, type 1 Alzheimer's disease not provided |
| Reversed | 1 |
| HGVS | NC_000021.8:g.27264096C>A; NC_000021.8:g.27264096C>G; NC_000021.8:g.27264096C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019715.27, RCV000019733.27, RCV000019714.28, RCV000020308.2, RCV000084575.1, |
[PMID 1678057] Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.
[PMID 1678058] Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.
[PMID 1679288
] APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.
[PMID 1908231] The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.
[PMID 8290965] Alzheimer's disease and possible gene interaction.
