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LDLR c.1580T>C ;(p.V527A)
Variant ID: 19-11224432-T-C
NM_000527.4(
LDLR
):c.1580T>C;(p.V527A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.
Nature Communications
Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G
Publication Date: 2021-10-06
Variant appearance in text: LDLR: V527A
PubMed Link:
34615865
Variant Present in the following documents:
41467_2021_26114_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Scientific Reports
Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C
Publication Date: 2020-02-03
Variant appearance in text: LDLR: 1580T>C; Val527Ala
PubMed Link:
32015373
Variant Present in the following documents:
41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Plos Genetics
Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H
Publication Date: 2015-02
Variant appearance in text: LDLR: V527A
PubMed Link:
25647241
Variant Present in the following documents:
pgen.1004855.s019.xlsx, sheet 1
View BVdb publication page