DMD c.4843A>T ;(p.K1615*)

Variant ID: X-32398629-T-A

NM_004006.2(DMD):c.4843A>T;(p.K1615*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association
van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D
Publication Date: 2019-12-03

Variant appearance in text: DMD: 4843A>T; Lys1615*
PubMed Link: 31771441
Variant Present in the following documents:
  • JAH3-8-e012993.pdf
  • JAH3-8-e012993-s001.pdf
View BVdb publication page



Left ventricular noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers.

Journal Of Cardiology Cases
Parent, John J JJ; Moore, Ryan A RA; Taylor, Michael D MD; Towbin, Jeffrey A JA; Jefferies, John L JL
Publication Date: 2015-01

Variant appearance in text: DMD: 4843A>T
PubMed Link: 30546524
Variant Present in the following documents:
  • Main text
View BVdb publication page