PCSK9 c.2002A>G ;(p.S668G)

Variant ID: 1-55529180-A-G

NM_174936.3(PCSK9):c.2002A>G;(p.S668G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: PCSK9: S668G; rs775077080
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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