TTN c.86641del ;(p.H28881Tfs*2)

Variant ID: 2-179424217-TG-T

NM_001267550.1(TTN):c.86641del;(p.H28881Tfs*2)

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: 86641del; His28881fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Whiffin, Nicola N; Walsh, Roddy R; Govind, Risha R; Edwards, Matthew M; Ahmad, Mian M; Zhang, Xiaolei X; Tayal, Upasana U; Buchan, Rachel R; Midwinter, William W; Wilk, Alicja E AE; Najgebauer, Hanna H; Francis, Catherine C; Wilkinson, Sam S; Monk, Thomas T; Brett, Laura L; O'Regan, Declan P DP; Prasad, Sanjay K SK; Morris-Rosendahl, Deborah J DJ; Barton, Paul J R PJR; Edwards, Elizabeth E; Ware, James S JS; Cook, Stuart A SA
Publication Date: 2018-10

Variant appearance in text: TTN: 86641delC
PubMed Link: 29369293
Variant Present in the following documents:
  • Main text
View BVdb publication page