PSEN1 c.164C>G ;(p.P55R)

Variant ID: 14-73637581-C-G

NM_000021.3(PSEN1):c.164C>G;(p.P55R)

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:

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes
Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL
Publication Date: 2022-03-18

Variant appearance in text: PS1: 164C>G
PubMed Link: 35328090
Variant Present in the following documents:
  • genes-13-00537.pdf
View BVdb publication page