MYBPC3 c.466C>G ;(p.L156V)

Variant ID: 11-47371604-G-C

NM_000256.3(MYBPC3):c.466C>G;(p.L156V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

The Journal Of Biological Chemistry
Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J
Publication Date: 2021-07

Variant appearance in text: MYBPC3: 466C>G
PubMed Link: 34097875
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc1.pdf
View BVdb publication page