TTN c.94579del ;(p.W31527Gfs*17)

Variant ID: 2-179411575-CA-C

NM_001267550.1(TTN):c.94579del;(p.W31527Gfs*17)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Human Genomics
Li, Mindy H MH; Abrudan, Jenica L JL; Dulik, Matthew C MC; Sasson, Ariella A; Brunton, Joshua J; Jayaraman, Vijayakumar V; Dugan, Noreen N; Haley, Danielle D; Rajagopalan, Ramakrishnan R; Biswas, Sawona S; Sarmady, Mahdi M; DeChene, Elizabeth T ET; Deardorff, Matthew A MA; Wilkens, Alisha A; Noon, Sarah E SE; Scarano, Maria I MI; Santani, Avni B AB; White, Peter S PS; Pennington, Jeffrey J; Conlin, Laura K LK; Spinner, Nancy B NB; Krantz, Ian D ID; Vetter, Victoria L VL
Publication Date: 2015-07-19

Variant appearance in text: TTN: 94578delT
PubMed Link: 26187847
Variant Present in the following documents:
  • Main text
  • 40246_2015_Article_38.pdf
View BVdb publication page