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LRP6 c.4436C>T ;(p.T1479I)
Variant ID: 12-12278243-G-A
NM_002336.2(
LRP6
):c.4436C>T;(p.T1479I)
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:
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Metabolites
Ghaleb, Youmna Y; Elbitar, Sandy S; Philippi, Anne A; El Khoury, Petra P; Azar, Yara Y; Andrianirina, Miangaly M; Loste, Alexia A; Abou-Khalil, Yara Y; Nicolas, Gaël G; Le Borgne, Marie M; Moulin, Philippe P; Di-Filippo, Mathilde M; Charrière, Sybil S; Farnier, Michel M; Yelnick, Cécile C; Carreau, Valérie V; Ferrières, Jean J; Lecerf, Jean-Michel JM; Derksen, Alexa A; Bernard, Geneviève G; Gauthier, Marie-Soleil MS; Coulombe, Benoit B; Lütjohann, Dieter D; Fin, Bertrand B; Boland, Anne A; Olaso, Robert R; Deleuze, Jean-François JF; Rabès, Jean-Pierre JP; Boileau, Catherine C; Abifadel, Marianne M; Varret, Mathilde M
Publication Date: 2022-03-18
Variant appearance in text: LRP6: Thr1479Ile
PubMed Link:
35323704
Variant Present in the following documents:
Main text
metabolites-12-00262.pdf
View BVdb publication page