LDLR c.2096del ;(p.P699Rfs*10)

Variant ID: 19-11231151-GC-G

NM_000527.4(LDLR):c.2096del;(p.P699Rfs*10)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine
Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F
Publication Date: 2022

Variant appearance in text: LDLR: 2096delC
PubMed Link: 35966514
Variant Present in the following documents:
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2016-03

Variant appearance in text: LDLR: 2096delC; Pro699Argfs*10
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page