ALK c.4211T>C ;(p.L1404P)

Variant ID: 2-29416742-A-G

NM_004304.4(ALK):c.4211T>C;(p.L1404P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: ALK: L1404P
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics
Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A
Publication Date: 2017-02-15

Variant appearance in text: ALK: L1404P
PubMed Link: 28202063
Variant Present in the following documents:
  • Main text
  • 12920_2017_Article_244.pdf
View BVdb publication page