TNNT2 c.427G>A ;(p.E143K)

Variant ID: 1-201333488-C-T

NM_001276345.1(TNNT2):c.427G>A;(p.E143K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.

Open Heart
de Feria, Alejandro E AE; Kott, Andrew E AE; Becker, Jason R JR
Publication Date: 2021-02

Variant appearance in text: TNNT2: E143K
PubMed Link: 33637569
Variant Present in the following documents:
  • openhrt-2020-001560supp001.pdf
View BVdb publication page



Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

Plos One
Wang, Yilu Y; Wang, Zhimin Z; Yang, Qi Q; Zou, Yubao Y; Zhang, Hongju H; Yan, Chaowu C; Feng, Xinxing X; Chen, Yi Y; Zhang, Yin Y; Wang, Jizheng J; Zhou, Xianliang X; Ahmad, Ferhaan F; Hui, Rutai R; Song, Lei L
Publication Date: 2013

Variant appearance in text: TNNT2: Glu143Lys
PubMed Link: 23840593
Variant Present in the following documents:
  • Main text
  • pone.0067087.pdf
View BVdb publication page