MYBPC3 c.1219G>C ;(p.G407R)

Variant ID: 11-47365047-C-G

NM_000256.3(MYBPC3):c.1219G>C;(p.G407R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.

American Journal Of Medical Genetics. Part A
Coban-Akdemir, Zeynep H ZH; Charng, Wu-Lin WL; Azamian, Mahshid M; Paine, Ingrid S IS; Punetha, Jaya J; Grochowski, Christopher M CM; Gambin, Tomasz T; Valdes, Santiago O SO; Cannon, Bryan B; Zapata, Gladys G; Hernandez, Patricia P PP; Jhangiani, Shalini S; Doddapaneni, Harsha H; Hu, Jianhong J; Boricha, Fatima F; Muzny, Donna M DM; Boerwinkle, Eric E; Yang, Yaping Y; Gibbs, Richard A RA; Posey, Jennifer E JE; Wehrens, Xander H T XHT; Belmont, John W JW; Kim, Jeffrey J JJ; Miyake, Christina Y CY; Lupski, James R JR; Lalani, Seema R SR
Publication Date: 2020-06

Variant appearance in text: MYBPC3: 1219G>C; Gly407Arg
PubMed Link: 32233023
Variant Present in the following documents:
  • Main text
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