TTN c.58172del ;(p.D19391Afs*45)

Variant ID: 2-179458948-GT-G

NM_001267550.1(TTN):c.58172del;(p.D19391Afs*45)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TTN: 58172del; Asp19391fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Recovery of Cardiac Function in Cardiomyopathy Caused by Titin Truncation.

Jama Cardiology
Felkin, Leanne E LE; Walsh, Roddy R; Ware, James S JS; Yacoub, Magdi H MH; Birks, Emma J EJ; Barton, Paul J R PJ; Cook, Stuart A SA
Publication Date: 2016-05-01

Variant appearance in text: TTN: 58172delA
PubMed Link: 27437901
Variant Present in the following documents:
  • Main text
View BVdb publication page