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LDLR c.2211G>T ;(p.R737S)
Variant ID: 19-11233920-G-T
NM_000527.4(
LDLR
):c.2211G>T;(p.R737S)
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:
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03
Variant appearance in text: LDLR: 2211G>T; Arg737Ser
PubMed Link:
26802169
Variant Present in the following documents:
Main text
View BVdb publication page