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

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:


Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia.

Vavilovskii Zhurnal Genetiki I Selektsii
Vasilyev, V B VB; Zakharova, F M FM; Bogoslovskaya, T Yu TY; Mandelshtam, M Yu MY
Publication Date: 2022-05

Variant appearance in text: PCSK9: H229H
PubMed Link: 35774363
Variant Present in the following documents:
  • VJGB-26-2238.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