LMNA c.1201C>A ;(p.R401S)

Variant ID: 1-156106048-C-A

NM_170707.3(LMNA):c.1201C>A;(p.R401S)

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:

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Open Heart
Captur, Gabriella G; Arbustini, Eloisa E; Syrris, Petros P; Radenkovic, Dina D; O'Brien, Ben B; Mckenna, William J WJ; Moon, James C JC
Publication Date: 2018

Variant appearance in text: rs61094188
PubMed Link: 30402260
Variant Present in the following documents:
  • openhrt-2018-000915supp002.xlsx, sheet 1
View BVdb publication page