NOTCH1 c.1650del ;(p.Y550*)

Variant ID: 9-139410452-TG-T

NM_017617.3(NOTCH1):c.1650del;(p.Y550*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing of adenoid cystic carcinoma.

The Journal Of Clinical Investigation
Stephens, Philip J PJ; Davies, Helen R HR; Mitani, Yoshitsugu Y; Van Loo, Peter P; Shlien, Adam A; Tarpey, Patrick S PS; Papaemmanuil, Elli E; Cheverton, Angela A; Bignell, Graham R GR; Butler, Adam P AP; Gamble, John J; Gamble, Stephen S; Hardy, Claire C; Hinton, Jonathan J; Jia, Mingming M; Jayakumar, Alagu A; Jones, David D; Latimer, Calli C; McLaren, Stuart S; McBride, David J DJ; Menzies, Andrew A; Mudie, Laura L; Maddison, Mark M; Raine, Keiran K; Nik-Zainal, Serena S; O'Meara, Sarah S; Teague, Jon W JW; Varela, Ignacio I; Wedge, David C DC; Whitmore, Ian I; Lippman, Scott M SM; McDermott, Ultan U; Stratton, Michael R MR; Campbell, Peter J PJ; El-Naggar, Adel K AK; Futreal, P Andrew PA
Publication Date: 2013-07

Variant appearance in text: NOTCH1: Y550fs*81
PubMed Link: 23778141
Variant Present in the following documents:
  • Main text
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