ALK c.4812C>A ;(p.Y1604*)

Variant ID: 2-29416141-G-T

NM_004304.4(ALK):c.4812C>A;(p.Y1604*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.

Familial Cancer
Schwermer, Miriam M; Behnert, Astrid A; Dörgeloh, Beate B; Ripperger, Tim T; Kratz, Christian P CP
Publication Date: 2021-10

Variant appearance in text: ALK: 4812C>A; Tyr1604*
PubMed Link: 33651299
Variant Present in the following documents:
  • 10689_2021_Article_233.pdf
View BVdb publication page



Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.

Familial Cancer
Schwermer, Miriam M; Behnert, Astrid A; Dörgeloh, Beate B; Ripperger, Tim T; Kratz, Christian P CP
Publication Date: 2021-10

Variant appearance in text: ALK: 4812C>A; Tyr1604*
PubMed Link: 33651299
Variant Present in the following documents:
  • 10689_2021_Article_233.pdf
View BVdb publication page



Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Publication Date: 2020-04

Variant appearance in text: ALK: Tyr1604Ter; rs753750497
PubMed Link: 32268276
Variant Present in the following documents:
  • mmc5.xlsx, sheet 5
View BVdb publication page



Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation.

Cancers
Fernandes, Maria Gabriela O MGO; Jacob, Maria M; Martins, Natália N; Moura, Conceição Souto CS; Guimarães, Susana S; Reis, Joana Pereira JP; Justino, Ana A; Pina, Maria João MJ; Cirnes, Luís L; Sousa, Catarina C; Pinto, Josué J; Marques, José Agostinho JA; Machado, José Carlos JC; Hespanhol, Venceslau V; Costa, José Luis JL
Publication Date: 2019-08-22

Variant appearance in text: ALK: 4812C>A
PubMed Link: 31443496
Variant Present in the following documents:
  • cancers-11-01229-s001.pdf
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: ALK: 4812C>A; Tyr1604*
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page