TTN c.46214del ;(p.F15405Sfs*17)

Variant ID: 2-179485033-GA-G

NM_001267550.1(TTN):c.46214del;(p.F15405Sfs*17)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case series, chemotherapy-induced cardiomyopathy: mind the family history!

European Heart Journal. Case Reports
Moghadasi, Setareh S; Fijn, Rienke R; Beeres, Saskia L M A SLMA; Bikker, Hennie H; Jongbloed, Jan D H JDH; Josephus Jitta, Djike D; Kroep, Judith R JR; Lekanne Deprez, Ronald H RH; Vos, Yvonne J YJ; de Vreede, Mariƫlle J M MJM; Antoni, M Louisa ML; Barge-Schaapveld, Daniela Q C M DQCM
Publication Date: 2021-10

Variant appearance in text: TTN: 46214del
PubMed Link: 34703979
Variant Present in the following documents:
  • Main text
  • ytab333.pdf
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: TTN: 46214del
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page