PSEN1 c.40G>T ;(p.A14S)

Variant ID: 14-73614767-G-T

NM_000021.3(PSEN1):c.40G>T;(p.A14S)

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:

Genetic variability in CLU and its association with Alzheimer's disease.

Plos One
Guerreiro, Rita J RJ; Beck, John J; Gibbs, J Raphael JR; Santana, Isabel I; Rossor, Martin N MN; Schott, Jonathan M JM; Nalls, Michael A MA; Ribeiro, Helena H; Santiago, Beatriz B; Fox, Nick C NC; Oliveira, Catarina C; Collinge, John J; Mead, Simon S; Singleton, Andrew A; Hardy, John J
Publication Date: 2010-03-03

Variant appearance in text: PSEN1: 40G>T
PubMed Link: 20209083
Variant Present in the following documents:
  • Main text
View BVdb publication page