||Possible Alzheimer's disease mutation - see discussion
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.