MYL2 c.163G>T ;(p.A55S)

Variant ID: 12-111353525-C-A

NM_000432.3(MYL2):c.163G>T;(p.A55S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: MYL2: 163G>T; Ala55Ser
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.

Open Heart
de Feria, Alejandro E AE; Kott, Andrew E AE; Becker, Jason R JR
Publication Date: 2021-02

Variant appearance in text: MYL2: A55S
PubMed Link: 33637569
Variant Present in the following documents:
  • openhrt-2020-001560supp001.pdf
View BVdb publication page