PSEN1 c.476A>T ;(p.Y159F)

Variant ID: 14-73640411-A-T

NM_000021.3(PSEN1):c.476A>T;(p.Y159F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences
Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Y159F
PubMed Link: 36142879
Variant Present in the following documents:
  • ijms-23-10970.pdf
View BVdb publication page



PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Scientific Reports
Kim, Young-Eun YE; Cho, Hanna H; Kim, Hee Jin HJ; Na, Duk L DL; Seo, Sang Won SW; Ki, Chang-Seok CS
Publication Date: 2020-02-26

Variant appearance in text: PSEN1: Tyr159Phe; rs778630379
PubMed Link: 32103039
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_59829.pdf
View BVdb publication page