Variant ID: 1-55518352-C-T

NM_174936.3(PCSK9):c.687C>T;(p.H229=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: PCSK9: H229H
PubMed Link: 33418990
Variant Present in the following documents:
  • genes-12-00066.pdf
View BVdb publication page



Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics
Vasilyev, Vadim V; Zakharova, Faina F; Bogoslovskay, Tatiana T; Mandelshtam, Mikhail M
Publication Date: 2020

Variant appearance in text: PCSK9: H229H
PubMed Link: 33391333
Variant Present in the following documents:
  • fgene-11-550591.pdf
View BVdb publication page