PSEN1 c.1177G>T ;(p.V393F)

Variant ID: 14-73683881-G-T

NM_000021.3(PSEN1):c.1177G>T;(p.V393F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 1177G>T; Val393Phe
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry
Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L
Publication Date: 2022-06

Variant appearance in text: PSEN1: V393F
PubMed Link: 35365805
Variant Present in the following documents:
  • Main text
View BVdb publication page