NOTCH1 c.6049_6050del ;(p.S2017Tfs*9)

Variant ID: 9-139393595-TGA-T

NM_017617.3(NOTCH1):c.6049_6050del;(p.S2017Tfs*9)

This variant was identified in 5 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: 6049_6050del; Ser2017fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 6049_6050delTC; Ser2017Thrfs*9
PubMed Link: 29924900
Variant Present in the following documents:
  • Main text
  • HUMU-39-1246.pdf
  • HUMU-39-1246-s001.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: NOTCH1: 6049_6050delTC; Ser2017Thrfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



EOGT and O-GlcNAc on secreted and membrane proteins.

Biochemical Society Transactions
Varshney, Shweta S; Stanley, Pamela P
Publication Date: 2017-04-15

Variant appearance in text: NOTCH1: S2017Tfs*9
PubMed Link: 28408480
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Circulation. Cardiovascular Genetics
Southgate, Laura L; Sukalo, Maja M; Karountzos, Anastasios S V ASV; Taylor, Edward J EJ; Collinson, Claire S CS; Ruddy, Deborah D; Snape, Katie M KM; Dallapiccola, Bruno B; Tolmie, John L JL; Joss, Shelagh S; Brancati, Francesco F; Digilio, M Cristina MC; Graul-Neumann, Luitgard M LM; Salviati, Leonardo L; Coerdt, Wiltrud W; Jacquemin, Emmanuel E; Wuyts, Wim W; Zenker, Martin M; Machado, Rajiv D RD; Trembath, Richard C RC
Publication Date: 2015-08

Variant appearance in text: NOTCH1: 6049_6050delTC; S2017Tfs*9
PubMed Link: 25963545
Variant Present in the following documents:
  • Main text
View BVdb publication page