MYBPC3 c.3103G>A ;(p.A1035T)

Variant ID: 11-47355195-C-T

NM_000256.3(MYBPC3):c.3103G>A;(p.A1035T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature.

Bmj Case Reports
Akbar, Asra A; Ahmad, Sharjeel S; Creeden, Sean S; Huynh, Huan H
Publication Date: 2022-11-03

Variant appearance in text: MYBPC3: 3103G>A
PubMed Link: 36328362
Variant Present in the following documents:
  • bcr-2022-250587.pdf
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: MYBPC3: 3103G>A; Ala1035Thr; rs552505566
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

International Journal Of Molecular Medicine
Cecconi, Massimiliano M; Parodi, Maria I MI; Formisano, Francesco F; Spirito, Paolo P; Autore, Camillo C; Musumeci, Maria B MB; Favale, Stefano S; Forleo, Cinzia C; Rapezzi, Claudio C; Biagini, Elena E; Davì, Sabrina S; Canepa, Elisabetta E; Pennese, Loredana L; Castagnetta, Mauro M; Degiorgio, Dario D; Coviello, Domenico A DA
Publication Date: 2016-10

Variant appearance in text: MYBPC3: 3103G>A; Ala1035Thr; rs552505566
PubMed Link: 27600940
Variant Present in the following documents:
  • Main text
  • ijmm-38-04-1111.pdf
View BVdb publication page