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]