Variant ID: 1-55512232-G-A

NM_174936.3(PCSK9):c.436G>A;(p.D146N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS
Publication Date: 2021-01

Variant appearance in text: PCSK9: 436G>A; Asp146Asn
PubMed Link: 33269076
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page