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LNPEP c.187A>G ;(p.M63V)
Variant ID: 5-96315009-A-G
NM_005575.2(
LNPEP
):c.187A>G;(p.M63V)
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: LNPEP: 187A>G; Met63Val
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 3
View BVdb publication page
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
Nature Communications
Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M
Publication Date: 2018-06-21
Variant appearance in text: LNPEP: Met63Val; rs779527107
PubMed Link:
29930244
Variant Present in the following documents:
41467_2018_4365_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page