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LDLR c.1495T>C ;(p.S499P)
Variant ID: 19-11224347-T-C
NM_000527.4(
LDLR
):c.1495T>C;(p.S499P)
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:
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: S499P
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: 1495T>C; Ser499Pro
PubMed Link:
32015373
Variant Present in the following documents:
41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Journal Of The Endocrine Society
Ittisoponpisan, Sirawit S; David, Alessia A
Publication Date: 2018-08-01
Variant appearance in text: LDLR: Ser499Pro; rs879254921
PubMed Link:
30019023
Variant Present in the following documents:
Main text
js.2018-00077.pdf
View BVdb publication page