MYBPC3 c.1333A>G ;(p.T445A)

Variant ID: 11-47364590-T-C

NM_000256.3(MYBPC3):c.1333A>G;(p.T445A)

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: MYBPC3: 1333A>G; Thr445Ala
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Biophysical Reviews
Brodehl, Andreas A; Gaertner-Rommel, Anna A; Milting, Hendrik H
Publication Date: 2018-08

Variant appearance in text: MYBPC3: T445A
PubMed Link: 29926427
Variant Present in the following documents:
  • Main text
View BVdb publication page