|(A;A)||0||common in clinvar|
Located in the PSEN1 gene, rs63750306 represents the rare variant site where all three possible single nucleotide mutations are known and considered pathogenic. The c.436A>C is also known as p.Met146Leu or M146L; the c.436A>G mutation is also known as p.Met146Val or M146V; and the c.436A>T mutation is also known as p.Met146Leu or M146L.
All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease and are listed in either ClinVar, OMIM and/or AlzForum.
23andMe calls the A>T variant: i5047522
The A>C variant is reported in [PMID 28350801] to be a "definitely" pathogenic mutation.
|Risk||rs63750306(C;C) rs63750306(G;G) rs63750306(T;T)|
|Alt||rs63750306(C;C) rs63750306(G;G) rs63750306(T;T)|
|Disease||Alzheimer disease not provided|
|CLNDBN||Alzheimer disease, type 3 not provided|
|HGVS||NC_000014.8:g.73640371A>C; NC_000014.8:g.73640371A>G; NC_000014.8:g.73640371A>T|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000019751.29, RCV000019757.27, RCV000084310.1,|
[PMID 7596406] Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
[PMID 7623584] Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease.
[PMID 9712537] Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.
[PMID 15622541] Pick bodies in a family with presenilin-1 Alzheimer's disease.