PCSK9 c.580C>T ;(p.R194W)

Variant ID: 1-55518007-C-T

NM_174936.3(PCSK9):c.580C>T;(p.R194W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs200027662
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

American Journal Of Human Genetics
Need, Anna C AC; McEvoy, Joseph P JP; Gennarelli, Massimo M; Heinzen, Erin L EL; Ge, Dongliang D; Maia, Jessica M JM; Shianna, Kevin V KV; He, Min M; Cirulli, Elizabeth T ET; Gumbs, Curtis E CE; Zhao, Qian Q; Campbell, C Ryan CR; Hong, Linda L; Rosenquist, Peter P; Putkonen, Anu A; Hallikainen, Tero T; Repo-Tiihonen, Eila E; Tiihonen, Jari J; Levy, Deborah L DL; Meltzer, Herbert Y HY; Goldstein, David B DB
Publication Date: 2012-08-10

Variant appearance in text: PCSK9: 580C>T; Arg194Trp
PubMed Link: 22863191
Variant Present in the following documents:
  • Main text
View BVdb publication page