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.




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