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LDLR c.1202T>C ;(p.L401P)
Variant ID: 19-11223969-T-C
NM_000527.4(
LDLR
):c.1202T>C;(p.L401P)
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:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: LDLR: L401P
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.
European Journal Of Human Genetics : Ejhg
Oosterveer, Daniëlla M DM; Versmissen, Jorie J; Defesche, Joep C JC; Sivapalaratnam, Suthesh S; Yazdanpanah, Mojgan M; Mulder, Monique M; van der Zee, Leonie L; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Hofman, Albert A; Kastelein, John J P JJ; Aulchenko, Yurii S YS; Sijbrands, Eric J G EJ
Publication Date: 2013-05
Variant appearance in text: LDLR: L401P
PubMed Link:
22968135
Variant Present in the following documents:
Main text
View BVdb publication page