PSEN1 c.737C>G ;(p.A246G)

Variant ID: 14-73659540-C-G

NM_000021.3(PSEN1):c.737C>G;(p.A246G)

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:

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Plos Genetics
Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD
Publication Date: 2014-10

Variant appearance in text: PSEN1: A246G
PubMed Link: 25299611
Variant Present in the following documents:
  • Main text
  • pgen.1004704.pdf
View BVdb publication page