MYBPC3 c.1567G>C ;(p.G523R)

Variant ID: 11-47364186-C-G

NM_000256.3(MYBPC3):c.1567G>C;(p.G523R)

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: Gly523Arg
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Circulation Research
Harris, Samantha P SP; Lyons, Ross G RG; Bezold, Kristina L KL
Publication Date: 2011-03-18

Variant appearance in text: cMyBP-C: G523R
PubMed Link: 21415409
Variant Present in the following documents:
  • Main text
View BVdb publication page