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