MYH7 c.3856G>A ;(p.E1286K)

Variant ID: 14-23888502-C-T

NM_000257.2(MYH7):c.3856G>A;(p.E1286K)

This variant was identified in 4 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: MYH7: 3856G>A
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
Publication Date: 2020-02-04

Variant appearance in text: MYH7: 3856G>A; E1286K
PubMed Link: 31983221
Variant Present in the following documents:
  • cir-141-387-s002.xlsx, sheet 6
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: MYH7: E1286K
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page



Genetic testing for dilated cardiomyopathy in clinical practice.

Journal Of Cardiac Failure
Lakdawala, Neal K NK; Funke, Birgit H BH; Baxter, Samantha S; Cirino, Allison L AL; Roberts, Amy E AE; Judge, Daniel P DP; Johnson, Nicole N; Mendelsohn, Nancy J NJ; Morel, Chantal C; Care, Melanie M; Chung, Wendy K WK; Jones, Carolyn C; Psychogios, Apostolos A; Duffy, Elizabeth E; Rehm, Heidi L HL; White, Emily E; Seidman, J G JG; Seidman, Christine E CE; Ho, Carolyn Y CY
Publication Date: 2012-04

Variant appearance in text: MYH7: E1286K
PubMed Link: 22464770
Variant Present in the following documents:
  • Main text
View BVdb publication page