PSEN1 c.633T>G ;(p.I211M)

Variant ID: 14-73659436-T-G

NM_000021.3(PSEN1):c.633T>G;(p.I211M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluating pathogenic dementia variants in posterior cortical atrophy.

Neurobiology Of Aging
Carrasquillo, Minerva M MM; Barber, Imelda I; Lincoln, Sarah J SJ; Murray, Melissa E ME; Camsari, Gamze Balci GB; Khan, Qurat Ul Ain QUA; Nguyen, Thuy T; Ma, Li L; Bisceglio, Gina D GD; Crook, Julia E JE; Younkin, Steven G SG; Dickson, Dennis W DW; Boeve, Bradley F BF; Graff-Radford, Neill R NR; Morgan, Kevin K; Ertekin-Taner, Nilüfer N
Publication Date: 2016-01

Variant appearance in text: PSEN1: I211M
PubMed Link: 26507310
Variant Present in the following documents:
  • Main text
View BVdb publication page



A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.

Plos One
Sitek, Emilia J EJ; Narożańska, Ewa E; Pepłońska, Beata B; Filipek, Sławomir S; Barczak, Anna A; Styczyńska, Maria M; Mlynarczyk, Krzysztof K; Brockhuis, Bogna B; Portelius, Erik E; Religa, Dorota D; Barcikowska, Maria M; Sławek, Jarosław J; Żekanowski, Cezary C
Publication Date: 2013

Variant appearance in text: PSEN1: I211M
PubMed Link: 23593396
Variant Present in the following documents:
  • Main text
  • pone.0061074.pdf
View BVdb publication page