DMD c.1183C>G ;(p.R395G)

Variant ID: X-32662397-G-C

NM_004006.2(DMD):c.1183C>G;(p.R395G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Journal Of The American Heart Association
Chahal, C Anwar A CAA; Salloum, Mohammad N MN; Alahdab, Fares F; Gottwald, Joseph A JA; Tester, David J DJ; Anwer, Lucman A LA; So, Elson L EL; Murad, Mohammad Hassan MH; St Louis, Erik K EK; Ackerman, Michael J MJ; Somers, Virend K VK
Publication Date: 2020-01-07

Variant appearance in text: DMD: Arg395Gly
PubMed Link: 31865891
Variant Present in the following documents:
  • JAH3-9-e012264.pdf
  • JAH3-9-e012264-s001.pdf
View BVdb publication page



Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.

Brain Pathology (Zurich, Switzerland)
Hata, Yukiko Y; Yoshida, Koji K; Kinoshita, Koshi K; Nishida, Naoki N
Publication Date: 2017-05

Variant appearance in text: DMD: Arg395Gly
PubMed Link: 27135274
Variant Present in the following documents:
  • Main text
View BVdb publication page