PSEN1 c.725C>A ;(p.P242H)

Variant ID: 14-73659528-C-A

NM_000021.3(PSEN1):c.725C>A;(p.P242H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research
Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2017-01

Variant appearance in text: PSEN1: 725C>A
PubMed Link: 28003435
Variant Present in the following documents:
  • supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 2
View BVdb publication page



Autosomal Dominant Alzheimer Disease: A Unique Resource to Study CSF Biomarker Changes in Preclinical AD.

Frontiers In Neurology
Schindler, Suzanne Elizabeth SE; Fagan, Anne M AM
Publication Date: 2015

Variant appearance in text: PSEN1: P242H
PubMed Link: 26175713
Variant Present in the following documents:
  • Main text
  • fneur-06-00142.pdf
View BVdb publication page



Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4.

Alzheimer'S Research & Therapy
Pollen, Daniel A DA; Baker, Stephen S; Hinerfeld, Douglas D; Swearer, Joan J; Evans, Barbara A BA; Evans, James E JE; Caselli, Richard R; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Moonis, Majaz M
Publication Date: 2010-10-29

Variant appearance in text: PSEN1: P242H
PubMed Link: 21062519
Variant Present in the following documents:
  • alzrt55.pdf
View BVdb publication page