rs150400387
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 5 | Possible Alzheimer's disease mutation - see discussion |
| Make rs150400387(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 226883747 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150400387 |
| dbSNP (classic) | rs150400387 |
| ClinGen | rs150400387 |
| ebi | rs150400387 |
| HLI | rs150400387 |
| Exac | rs150400387 |
| Gnomad | rs150400387 |
| Varsome | rs150400387 |
| LitVar | rs150400387 |
| Map | rs150400387 |
| PheGenI | rs150400387 |
| Biobank | rs150400387 |
| 1000 genomes | rs150400387 |
| hgdp | rs150400387 |
| ensembl | rs150400387 |
| geneview | rs150400387 |
| scholar | rs150400387 |
| rs150400387 | |
| pharmgkb | rs150400387 |
| gwascentral | rs150400387 |
| openSNP | rs150400387 |
| 23andMe | rs150400387 |
| SNPshot | rs150400387 |
| SNPdbe | rs150400387 |
| MSV3d | rs150400387 |
| GWAS Ctlg | rs150400387 |
| Max Magnitude | 5 |
rs150400387, also known as c.184C>T, p.Arg62Cys and R62C, represents a rare mutation in the PSEN2 gene on chromosome 1.
Certain mutations in the PSEN2 gene lead to early-onset Alzheimer's disease, usually inherited in an autosomal dominant manner. The rs150400387(T) allele is reported in a 49 year old Korean patient as being pathogenic, as also predicted by structural calculations.10.2147/CIA.S128884
However, the AlzForum database, which does tabulate at least 4 individuals with Alzheimer's carrying this mutation, concludes that the pathogenicity remains unclear.[1]
