MYBPC3 c.1226+6T>C

Variant ID: 11-47364805-A-G

NM_000256.3(MYBPC3):c.1226+6T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.

International Journal Of Molecular Sciences
Coll, Monica M; Fernandez-Falgueras, Anna A; Iglesias, Anna A; Del Olmo, Bernat B; Nogue-Navarro, Laia L; Simon, Adria A; Perez Serra, Alexandra A; Puigmule, Marta M; Lopez, Laura L; Pico, Ferran F; Corona, Monica M; Vallverdu-Prats, Marta M; Tiron, Coloma C; Campuzano, Oscar O; Castella, Josep J; Brugada, Ramon R; Alcalde, Mireia M
Publication Date: 2022-10-20

Variant appearance in text: MYBPC3: 1226+6T>C
PubMed Link: 36293497
Variant Present in the following documents:
  • ijms-23-12640.pdf
View BVdb publication page



Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?

Cardiology Research And Practice
Sousa, Alexandra A; Canedo, Paulo P; Campelo, Manuel M; Moura, Brenda B; Leite, Sérgio S; Baixia, Márcia M; Belo, Adriana A; Rocha-Gonçalves, Francisco F; Machado, José Carlos JC; Silva-Cardoso, José J; Martins, Elisabete E; Fatima Investigators,
Publication Date: 2019

Variant appearance in text: rs397515892
PubMed Link: 31179125
Variant Present in the following documents:
  • Main text
  • CRP2019-2743650.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: MYBPC3: 1226+6T>C; rs397515892
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page