MYBPC3 c.2459G>C ;(p.R820P)

Variant ID: 11-47359085-C-G

NM_000256.3(MYBPC3):c.2459G>C;(p.R820P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Npj Genomic Medicine
Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-06-16

Variant appearance in text: rs2856655
PubMed Link: 34135346
Variant Present in the following documents:
  • Main text
View BVdb publication page



Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Mastroianno, Sandra S; Palumbo, Pietro P; Castellana, Stefano S; Leone, Maria Pia MP; Massaro, Raimondo R; Potenza, Domenico Rosario DR; Mazza, Tommaso T; Russo, Aldo A; Castori, Marco M; Carella, Massimo M; Di Stolfo, Giuseppe G
Publication Date: 2020-05

Variant appearance in text: rs2856655
PubMed Link: 31524317
Variant Present in the following documents:
  • Main text
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MYBPC3: 2459G>C; R820P
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page