PCSK9 c.2048dup ;(p.H683Qfs*28)

Variant ID: 1-55529225-C-CA

NM_174936.3(PCSK9):c.2048dup;(p.H683Qfs*28)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017

Variant appearance in text: PCSK9: 2048dupA; H683fs
PubMed Link: 29036232
Variant Present in the following documents:
  • Main text
  • pone.0186446.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: PCSK9: 2048dupA; H683fs
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x5.xls, sheet 1
  • emm2017142x4.xls, sheet 1
View BVdb publication page