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ALK c.1588G>C ;(p.E530Q)
Variant ID: 2-29541229-C-G
NM_004304.4(
ALK
):c.1588G>C;(p.E530Q)
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:
A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.
Journal Of Veterinary Internal Medicine
Jacinto, Joana G P JGP; Häfliger, Irene M IM; Veiga, Inês M B IMB; Drögemüller, Cord C; Agerholm, Jørgen S JS
Publication Date: 2020-11
Variant appearance in text: ALK: 1588G>C; Glu530Gln
PubMed Link:
33135329
Variant Present in the following documents:
JVIM-34-2800-s003.pdf
View BVdb publication page
Targeted sequencing reveals TP53 as a potential diagnostic biomarker in the post-treatment surveillance of head and neck cancer.
Oncotarget
van Ginkel, Joost H JH; de Leng, Wendy W J WW; de Bree, Remco R; van Es, Robert J J RJ; Willems, Stefan M SM
Publication Date: 2016-09-20
Variant appearance in text: ALK: 1588G>C
PubMed Link:
27528217
Variant Present in the following documents:
Main text
oncotarget-07-61575.pdf
View BVdb publication page