MYBPC3 c.2222_2223insG ;(p.E742Rfs*5)

Variant ID: 11-47360156-T-TC

NM_000256.3(MYBPC3):c.2222_2223insG;(p.E742Rfs*5)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

Scientific Reports
Liu, Xuxia X; Jiang, Tengyong T; Piao, Chunmei C; Li, Xiaoyan X; Guo, Jun J; Zheng, Shuai S; Zhang, Xiaoping X; Cai, Tao T; Du, Jie J
Publication Date: 2015-06-19

Variant appearance in text: MYBPC3: 2222_2223insG
PubMed Link: 26090888
Variant Present in the following documents:
  • Main text
  • srep11411.pdf
View BVdb publication page