NOTCH1 c.2380G>T ;(p.E794*)

Variant ID: 9-139407560-C-A

NM_017617.3(NOTCH1):c.2380G>T;(p.E794*)

This variant was identified in 4 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: NOTCH1: 2380G>T; Glu794Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 2380G>T; Glu794Ter
PubMed Link: 35288444
Variant Present in the following documents:
  • heartjnl-2021-320428supp001.pdf
View BVdb publication page



Clinical Implications of Noncoding Indels in the Surfactant-Encoding Genes in Lung Cancer.

Cancers
Nakagomi, Takahiro T; Hirotsu, Yosuke Y; Goto, Taichiro T; Shikata, Daichi D; Yokoyama, Yujiro Y; Higuchi, Rumi R; Otake, Sotaro S; Amemiya, Kenji K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2019-04-17

Variant appearance in text: NOTCH1: Glu794Ter
PubMed Link: 30999697
Variant Present in the following documents:
  • cancers-11-00552.pdf
View BVdb publication page



Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Human Mutation
Meester, Josephina A N JAN; Sukalo, Maja M; Schröder, Kim C KC; Schanze, Denny D; Baynam, Gareth G; Borck, Guntram G; Bramswig, Nuria C NC; Duman, Duygu D; Gilbert-Dussardier, Brigitte B; Holder-Espinasse, Muriel M; Itin, Peter P; Johnson, Diana S DS; Joss, Shelagh S; Koillinen, Hannele H; McKenzie, Fiona F; Morton, Jenny J; Nelle, Heike H; Reardon, Willie W; Roll, Claudia C; Salih, Mustafa A MA; Savarirayan, Ravi R; Scurr, Ingrid I; Splitt, Miranda M; Thompson, Elizabeth E; Titheradge, Hannah H; Travers, Colm P CP; Van Maldergem, Lionel L; Whiteford, Margo M; Wieczorek, Dagmar D; Vandeweyer, Geert G; Trembath, Richard R; Van Laer, Lut L; Loeys, Bart L BL; Zenker, Martin M; Southgate, Laura L; Wuyts, Wim W
Publication Date: 2018-09

Variant appearance in text: NOTCH1: 2380G>T; Glu794*
PubMed Link: 29924900
Variant Present in the following documents:
  • Main text
  • HUMU-39-1246.pdf
View BVdb publication page