MYBPC3 c.3191-21A>G

Variant ID: 11-47354905-T-C

NM_000256.3(MYBPC3):c.3191-21A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Brain Proteome-Wide Association Study Identifies Candidate Genes that Regulate Protein Abundance Associated with Post-Traumatic Stress Disorder.

Genes
Zhang, Zhen Z; Meng, Peilin P; Zhang, Huijie H; Jia, Yumeng Y; Wen, Yan Y; Zhang, Jingxi J; Chen, Yujing Y; Li, Chun'e C; Pan, Chuyu C; Cheng, Shiqiang S; Yang, Xuena X; Yao, Yao Y; Liu, Li L; Zhang, Feng F
Publication Date: 2022-07-27

Variant appearance in text: rs11570115
PubMed Link: 35893077
Variant Present in the following documents:
  • genes-13-01341.pdf
View BVdb publication page



ICA1L Is Associated with Small Vessel Disease: A Proteome-Wide Association Study in Small Vessel Stroke and Intracerebral Haemorrhage.

International Journal Of Molecular Sciences
Cullell, Natalia N; Gallego-Fábrega, Cristina C; Cárcel-Márquez, Jara J; Muiño, Elena E; Llucià-Carol, Laia L; Lledós, Miquel M; Martín-Campos, Jesús M JM; Molina, Jessica J; Casas, Laura L; Almeria, Marta M; Fernández-Cadenas, Israel I; Krupinski, Jerzy J
Publication Date: 2022-03-15

Variant appearance in text: rs11570115
PubMed Link: 35328582
Variant Present in the following documents:
  • ijms-23-03161.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: MYBPC3: 3191-21A>G; rs11570115
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.

Bmc Medical Genomics
Lotta, Luca A LA; Wang, Mark M; Yu, Jin J; Martinelli, Ida I; Yu, Fuli F; Passamonti, Serena M SM; Consonni, Dario D; Pappalardo, Emanuela E; Menegatti, Marzia M; Scherer, Steven E SE; Lewis, Lora L LL; Akbar, Humeira H; Wu, Yuanqing Y; Bainbridge, Matthew N MN; Muzny, Donna M DM; Mannucci, Pier M PM; Gibbs, Richard A RA; Peyvandi, Flora F
Publication Date: 2012-02-21

Variant appearance in text: rs11570115
PubMed Link: 22353194
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Plos One
Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C
Publication Date: 2011

Variant appearance in text: MYBPC3: 3191-21A>G; rs11570115
PubMed Link: 22194935
Variant Present in the following documents:
  • pone.0028872.s001.pdf
View BVdb publication page