Variant ID: 1-55509582-G-A

NM_174936.3(PCSK9):c.274G>A;(p.E92K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics
Norsworthy, Penny J PJ; Vandrovcova, Jana J; Thomas, Ellen R A ER; Campbell, Archie A; Kerr, Shona M SM; Biggs, Jennifer J; Game, Laurence L; Soutar, Anne K AK; Smith, Blair H BH; Dominiczak, Anna F AF; Porteous, David J DJ; Morris, Andrew D AD; Scotland, Generation G; Aitman, Timothy J TJ
Publication Date: 2014-06-23

Variant appearance in text: PCSK9: 274G>A; Glu92Lys
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page