MYBPC3 c.1621C>T ;(p.Q541*)

Variant ID: 11-47364132-G-A

NM_000256.3(MYBPC3):c.1621C>T;(p.Q541*)

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: 1621C>T; Q541X
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
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: MYBPC3: Gln541ter
PubMed Link: 23197398
Variant Present in the following documents:
  • Main text
View BVdb publication page