MYBPC3 c.3572C>T ;(p.S1191L)

Variant ID: 11-47354172-G-A

NM_000256.3(MYBPC3):c.3572C>T;(p.S1191L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight
Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F
Publication Date: 2022-06-08

Variant appearance in text: MYBPC3: 3572C>T; S1191L; rs761545914
PubMed Link: 35511434
Variant Present in the following documents:
  • jciinsight-7-155804-s145.xlsx, sheet 2
  • jciinsight-7-155804-s145.xlsx, sheet 3
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: S1191L
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Journal Of Medical Genetics
Lopes, Luis R LR; Zekavati, Anna A; Syrris, Petros P; Hubank, Mike M; Giambartolomei, Claudia C; Dalageorgou, Chrysoula C; Jenkins, Sharon S; McKenna, William W; , ; Plagnol, Vincent V; Elliott, Perry M PM
Publication Date: 2013-04

Variant appearance in text: MYBPC3: S1191L
PubMed Link: 23396983
Variant Present in the following documents:
  • jmedgenet-2012-101270-s2.pdf
View BVdb publication page