Bibliome.ai browser hg19
Search
About
Stats
FAQ
LDLR c.1761C>A ;(p.S587R)
Variant ID: 19-11227590-C-A
NM_000527.4(
LDLR
):c.1761C>A;(p.S587R)
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:
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: S587R
PubMed Link:
34615865
Variant Present in the following documents:
41467_2021_26114_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
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: S587R
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page