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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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