TTN c.93376del ;(p.S31126Afs*7)

Variant ID: 2-179412977-CT-C

NM_001267550.1(TTN):c.93376del;(p.S31126Afs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: TTN: 93376delA
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: TTN: 93376delA
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
View BVdb publication page