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Variant ID: 1-55529180-A-G
NM_174936.3(
PCSK9
):c.2002A>G;(p.S668G)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.
Frontiers In Medicine
Primorac, Dragan D; Odak, Ljubica L; Perić, Vitorio V; Ćatić, Jasmina J; Šikić, Jozica J; Radeljić, Vjekoslav V; Manola, Šime Š; Nussbaum, Robert R; Vatta, Matteo M; Aradhya, Swaroop S; Sofrenović, Tanja T; Matišić, Vid V; Molnar, Vilim V; Skelin, Andrea A; Mirat, Jure J; Brachmann, Johannes J
Publication Date: 2021
Variant appearance in text: PCSK9: 2002A>G; Ser668Gly
PubMed Link:
33829027
Variant Present in the following documents:
Main text
fmed-08-647412.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: PCSK9: 2002A>G; Ser668Gly; rs775077080
PubMed Link:
33418990
Variant Present in the following documents:
Main text
genes-12-00066.pdf
View BVdb publication page