MYBPC3 c.2534G>C ;(p.R845P)

Variant ID: 11-47359010-C-G

NM_000256.3(MYBPC3):c.2534G>C;(p.R845P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: MYBPC3: Arg845Pro
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research
Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH
Publication Date: 2013-02

Variant appearance in text: MYBPC3: Arg845Pro
PubMed Link: 23233322
Variant Present in the following documents:
  • Main text
  • 12265_2012_Article_9425.pdf
View BVdb publication page