MYH7 c.2502C>G ;(p.F834L)

Variant ID: 14-23894155-G-C

NM_000257.2(MYH7):c.2502C>G;(p.F834L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYH7: 2502C>G; Phe834Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology
Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2022

Variant appearance in text: MYH7: F834L
PubMed Link: 36225299
Variant Present in the following documents:
  • Main text
  • fphys-13-975076.pdf
View BVdb publication page



Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function.

Elife
Morck, Makenna M MM; Bhowmik, Debanjan D; Pathak, Divya D; Dawood, Aminah A; Spudich, James J; Ruppel, Kathleen M KM
Publication Date: 2022-06-29

Variant appearance in text: MYH7: F834L
PubMed Link: 35767336
Variant Present in the following documents:
  • Main text
  • elife-76805.pdf
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYH7: 2502C>G; Phe834Leu
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
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: F834L
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page