MYH7 c.1759G>A ;(p.D587N)

Variant ID: 14-23896923-C-T

NM_000257.2(MYH7):c.1759G>A;(p.D587N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Npj Genomic Medicine
Lesurf, Robert R; Said, Abdelrahman A; Akinrinade, Oyediran O; Breckpot, Jeroen J; Delfosse, Kathleen K; Liu, Ting T; Yao, Roderick R; Persad, Gabrielle G; McKenna, Fintan F; Noche, Ramil R RR; Oliveros, Winona W; Mattioli, Kaia K; Shah, Shreya S; Miron, Anastasia A; Yang, Qian Q; Meng, Guoliang G; Yue, Michelle Chan Seng MCS; Sung, Wilson W L WWL; Thiruvahindrapuram, Bhooma B; Lougheed, Jane J; Oechslin, Erwin E; Mondal, Tapas T; Bergin, Lynn L; Smythe, John J; Jayappa, Shashank S; Rao, Vinay J VJ; Shenthar, Jayaprakash J; Dhandapany, Perundurai S PS; Semsarian, Christopher C; Weintraub, Robert G RG; Bagnall, Richard D RD; Ingles, Jodie J; , ; Melé, Marta M; Maass, Philipp G PG; Ellis, James J; Scherer, Stephen W SW; Mital, Seema S
Publication Date: 2022-03-14

Variant appearance in text: MYH7: 1759G>A; D587N
PubMed Link: 35288587
Variant Present in the following documents:
  • 41525_2022_288_MOESM2_ESM.xlsx, sheet 1
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Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.

Circulation Research
Saltzman, Adam J AJ; Mancini-DiNardo, Debora D; Li, Chumei C; Chung, Wendy K WK; Ho, Carolyn Y CY; Hurst, Stephanie S; Wynn, Julia J; Care, Melanie M; Hamilton, Robert M RM; Seidman, Gregor W GW; Gorham, Joshua J; McDonough, Barbara B; Sparks, Elizabeth E; Seidman, J G JG; Seidman, Christine E CE; Rehm, Heidi L HL
Publication Date: 2010-05-14

Variant appearance in text: MYH7: Asp587Asn
PubMed Link: 20378854
Variant Present in the following documents:
  • Main text
View BVdb publication page