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ALK c.712_714del ;(p.P238del)
Variant ID: 2-29940516-CAGG-C
NM_004304.4(
ALK
):c.712_714del;(p.P238del)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.
European Journal Of Human Genetics : Ejhg
Bourdeaut, Franck F; Ferrand, Sandrine S; Brugières, Laurence L; Hilbert, Marjorie M; Ribeiro, Agnès A; Lacroix, Ludovic L; Bénard, Jean J; Combaret, Valérie V; Michon, Jean J; Valteau-Couanet, Dominique D; Isidor, Bertrand B; Rialland, Xavier X; Poirée, Maryline M; Defachelles, Anne-Sophie AS; Peuchmaur, Michel M; Schleiermacher, Gudrun G; Pierron, Gaëlle G; Gauthier-Villars, Marion M; Janoueix-Lerosey, Isabelle I; Delattre, Olivier O; ,
Publication Date: 2012-03
Variant appearance in text: ALK: Pro238del
PubMed Link:
22071890
Variant Present in the following documents:
Main text
View BVdb publication page