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AKAP13 c.1917A>G ;(p.S639=)
Variant ID: 15-86123216-A-G
NM_007200.4(
AKAP13
):c.1917A>G;(p.S639=)
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:
Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.
Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019
Variant appearance in text: AKAP13: 1917A>G
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 21
pone.0210079.s007.xlsx, sheet 3
View BVdb publication page
Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.
Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18
Variant appearance in text: N/A
PubMed Link:
27534895
Variant Present in the following documents:
View BVdb publication page