PSEN1 c.853G>T ;(p.A285S)

Variant ID: 14-73664822-G-T

NM_000021.3(PSEN1):c.853G>T;(p.A285S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: Ala285Ser
PubMed Link: 32103039
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_59829.pdf
View BVdb publication page