PSEN1 c.1311C>G ;(p.I437M)

Variant ID: 14-73685904-C-G

NM_000021.3(PSEN1):c.1311C>G;(p.I437M)

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:

Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications
Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC
Publication Date: 2018-07-24

Variant appearance in text: PSEN1: I437M
PubMed Link: 30042426
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_5262.pdf
View BVdb publication page