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LDLR c.1857T>G ;(p.F619L)
Variant ID: 19-11230779-T-G
NM_000527.4(
LDLR
):c.1857T>G;(p.F619L)
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: F619L
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020
Variant appearance in text: LDLR: F619L
PubMed Link:
32793292
Variant Present in the following documents:
Main text
fgene-11-00833.pdf
View BVdb publication page