LDLR c.2389+5G>A

Variant ID: 19-11238766-G-A

NM_000527.4(LDLR):c.2389+5G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Journal Of Personalized Medicine
Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M
Publication Date: 2021-11-19

Variant appearance in text: rs879255191
PubMed Link: 34834584
Variant Present in the following documents:
  • Main text
  • jpm-11-01232.pdf
View BVdb publication page



The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: rs879255191
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
  • genes-12-00066.pdf
View BVdb publication page