MYH7 c.2596T>C ;(p.S866P)

Variant ID: 14-23894061-A-G

NM_000257.2(MYH7):c.2596T>C;(p.S866P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: MYH7: 2596T>C; Ser866Pro
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: MYH7: 2596T>C; S866P
PubMed Link: 28771489
Variant Present in the following documents:
  • Main text
  • pone.0181465.s002.xlsx, sheet 1
  • pone.0181465.pdf
View BVdb publication page



Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.

Clinical Cardiology
Fujino, Noboru N; Konno, Tetsuo T; Hayashi, Kenshi K; Hodatsu, Akihiko A; Fujita, Takashi T; Tsuda, Toyonobu T; Nagata, Yoji Y; Kawashiri, Masa-aki MA; Ino, Hidekazu H; Yamagishi, Masakazu M
Publication Date: 2013-03

Variant appearance in text: MYH7: Ser866Pro
PubMed Link: 23197398
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of QT variables on clinical outcome of genotyped hypertrophic cardiomyopathy.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Uchiyama, Katsuharu K; Hayashi, Kenshi K; Fujino, Noboru N; Konno, Tetsuo T; Sakamoto, Yuichiro Y; Sakata, Kenji K; Kawashiri, Masa-aki MA; Ino, Hidekazu H; Yamagishi, Masakazu M
Publication Date: 2009-01

Variant appearance in text: MYH7: Ser866Pro
PubMed Link: 19149795
Variant Present in the following documents:
  • Main text
View BVdb publication page