PSEN1 c.250A>C ;(p.M84L)

Variant ID: 14-73637667-A-C

NM_000021.3(PSEN1):c.250A>C;(p.M84L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: PSEN1: M84L; rs749249788
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Alzheimer'S Research & Therapy
Hsu, Simon S; Gordon, Brian A BA; Hornbeck, Russ R; Norton, Joanne B JB; Levitch, Denise D; Louden, Adia A; Ziegemeier, Ellen E; Laforce, Robert R; Chhatwal, Jasmeer J; Day, Gregory S GS; McDade, Eric E; Morris, John C JC; Fagan, Anne M AM; Benzinger, Tammie L S TLS; Goate, Alison M AM; Cruchaga, Carlos C; Bateman, Randall J RJ; , ; Karch, Celeste M CM
Publication Date: 2018-07-18

Variant appearance in text: PSEN1: M84L
PubMed Link: 30021643
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_392.pdf
View BVdb publication page