LDLR c.17G>A ;(p.W6*)

Variant ID: 19-11200241-G-A

NM_000527.4(LDLR):c.17G>A;(p.W6*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Left main revascularization with optical coherence tomography in a young male with newly diagnosed homozygous familial hypercholesterolemia.

Journal Of Cardiology Cases
Revaiah, Pruthvi C PC; Bootla, Dinakar D; Vemuri, Krishna Santosh KS; Nevali, Krishna Prasad KP; Ghosh, Soumitra S; Sharma, Yash Paul YP; Panda, Prashant P
Publication Date: 2022-01

Variant appearance in text: LDLR: Trp6Ter
PubMed Link: 35024061
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
Wang, Hao H; Yang, Hang H; Liu, Zhaohui Z; Cui, Kai K; Zhang, Yinhui Y; Zhang, Yujing Y; Zhao, Kun K; Yin, Kunlun K; Li, Wenke W; Zhou, Zhou Z
Publication Date: 2020-12-01

Variant appearance in text: LDLR: 17G>A; Trp6Ter
PubMed Link: 32759540
Variant Present in the following documents:
  • Main text
  • jat-27-1288.pdf
View BVdb publication page