TTN c.56206del ;(p.T18736Pfs*8)

Variant ID: 2-179464422-GT-G

NM_001267550.1(TTN):c.56206del;(p.T18736Pfs*8)

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: 56206del; Thr18736fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D
Publication Date: 2019-03

Variant appearance in text: TTN: 56206delA; T18736fs
PubMed Link: 29961767
Variant Present in the following documents:
  • Main text
  • nihms-1594241.pdf
View BVdb publication page