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LDLR c.1229G>A ;(p.R410K)
Variant ID: 19-11223996-G-A
NM_000527.4(
LDLR
):c.1229G>A;(p.R410K)
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:
The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.
The Journal Of Biological Chemistry
Susan-Resiga, Delia D; Girard, Emmanuelle E; Kiss, Robert Scott RS; Essalmani, Rachid R; Hamelin, Josée J; Asselin, Marie-Claude MC; Awan, Zuhier Z; Butkinaree, Chutikarn C; Fleury, Alexandre A; Soldera, Armand A; Dory, Yves L YL; Baass, Alexis A; Seidah, Nabil G NG
Publication Date: 2017-02-03
Variant appearance in text: LDLR: R410K
PubMed Link:
27998977
Variant Present in the following documents:
Main text
View BVdb publication page