LDLR c.768C>A ;(p.D256E)

Variant ID: 19-11217314-C-A

NM_000527.4(LDLR):c.768C>A;(p.D256E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Journal Of Personalized Medicine
Meshkov, Alexey N AN; Ershova, Alexandra I AI; Kiseleva, Anna V AV; Shalnova, Svetlana A SA; Drapkina, Oxana M OM; Boytsov, Sergey A SA; On Behalf Of The Fh-Esse-Rf Investigators,
Publication Date: 2021-05-24

Variant appearance in text: LDLR: 768C>A; Asp256Glu; rs879254671
PubMed Link: 34074024
Variant Present in the following documents:
  • Main text
  • jpm-11-00464.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: LDLR: 768C>A; Asp256Glu; rs879254671
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
  • genes-12-00066.pdf
View BVdb publication page