SMN1 c.125C>A ;(p.A42E)

Variant ID: 5-70234709-C-A

NM_000344.3(SMN1):c.125C>A;(p.A42E)

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:

Dipeptidyl peptidase-4 is increased in the abdominal aortic aneurysm vessel wall and is associated with aneurysm disease processes.

Plos One
Lindquist Liljeqvist, Moritz M; Eriksson, Linnea L; Villard, Christina C; Lengquist, Mariette M; Kronqvist, Malin M; Hultgren, Rebecka R; Roy, Joy J
Publication Date: 2020

Variant appearance in text: SMA: A42E
PubMed Link: 31971988
Variant Present in the following documents:
  • Main text
View BVdb publication page