PSEN1 c.655_656delinsTG ;(p.L219C)

Variant ID: 14-73659458-CT-TG

NM_000021.3(PSEN1):c.655_656delinsTG;(p.L219C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: PS1: L219C
PubMed Link: 26818522
Variant Present in the following documents:
  • Main text
View BVdb publication page