NF1 c.1790T>C ;(p.L597P)

Variant ID: 17-29550530-T-C

NM_001042492.2(NF1):c.1790T>C;(p.L597P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.

Plos Genetics
Tomić, Tajana Tešan TT; Olausson, Josefin J; Rehammar, Anna A; Deland, Lily L; Muth, Andreas A; Ejeskär, Katarina K; Nilsson, Staffan S; Kristiansson, Erik E; Wassén, Ola Nilsson ON; Abel, Frida F
Publication Date: 2020-06

Variant appearance in text: NF1: L597P
PubMed Link: 32511227
Variant Present in the following documents:
  • Main text
  • pgen.1008803.pdf
View BVdb publication page



BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib.

Pigment Cell & Melanoma Research
Ranzani, Marco M; Alifrangis, Constantine C; Perna, Daniele D; Dutton-Regester, Ken K; Pritchard, Antonia A; Wong, Kim K; Rashid, Mamunur M; Robles-Espinoza, Carla Daniela CD; Hayward, Nicholas K NK; McDermott, Ultan U; Garnett, Mathew M; Adams, David J DJ
Publication Date: 2015-01

Variant appearance in text: NF1: L597P
PubMed Link: 25243813
Variant Present in the following documents:
  • Main text
  • pcmr0028-0117.pdf
View BVdb publication page