Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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