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LDLR c.1139A>C ;(p.E380A)
Variant ID: 19-11222268-A-C
NM_000527.4(
LDLR
):c.1139A>C;(p.E380A)
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:
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Journal Of Atherosclerosis And Thrombosis
Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ
Publication Date: 2022-05-01
Variant appearance in text: LDLR: E380A
PubMed Link:
33994402
Variant Present in the following documents:
jat-29-639.pdf
View BVdb publication page
Targeting FcRn for the modulation of antibody dynamics.
Molecular Immunology
Ward, E Sally ES; Devanaboyina, Siva Charan SC; Ober, Raimund J RJ
Publication Date: 2015-10
Variant appearance in text: LDLR: E380A
PubMed Link:
25766596
Variant Present in the following documents:
Main text
View BVdb publication page