MYBPC3 c.1458-1G>C

Variant ID: 11-47364296-C-G

NM_000256.3(MYBPC3):c.1458-1G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 1458-1G>C; rs397515903
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
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: 1458-1G>C; rs397515903
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
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: rs397515903
PubMed Link: 27600940
Variant Present in the following documents:
  • Main text
  • ijmm-38-04-1111.pdf
View BVdb publication page