LDLR c.1864G>T ;(p.D622Y)

Variant ID: 19-11230786-G-T

NM_000527.4(LDLR):c.1864G>T;(p.D622Y)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.

Journal Of Atherosclerosis And Thrombosis
Kalra, Sanjay S; Chen, Zhenyue Z; Deerochanawong, Chaicharn C; Shyu, Kou-Gi KG; Tan, Ru San RS; Tomlinson, Brian B; Yeh, Hung-I HI
Publication Date: 2021-05-01

Variant appearance in text: LDLR: Asp622Tyr
PubMed Link: 33746137
Variant Present in the following documents:
  • Main text
  • 28_417.pdf
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: 1864G>T; Asp622Tyr
PubMed Link: 32759540
Variant Present in the following documents:
  • Main text
  • jat-27-1288.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: LDLR: 1864G>T; Asp622Tyr
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Lipids In Health And Disease
Sun, Di D; Zhou, Bing-Yang BY; Li, Sha S; Sun, Ning-Ling NL; Hua, Qi Q; Wu, Shu-Lin SL; Cao, Yun-Shan YS; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Gao, Ying Y; Cui, Chuan-Jue CJ; Liu, Geng G; Li, Jian-Jun JJ
Publication Date: 2018-11-06

Variant appearance in text: LDLR: 1864G>T; D622Y
PubMed Link: 30400955
Variant Present in the following documents:
  • Main text
  • 12944_2018_Article_900.pdf
View BVdb publication page



The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Scientific Reports
Jiang, Long L; Wu, Wen-Feng WF; Sun, Li-Yuan LY; Chen, Pan-Pan PP; Wang, Wei W; Benito-Vicente, Asier A; Zhang, Fan F; Pan, Xiao-Dong XD; Cui, Wei W; Yang, Shi-Wei SW; Zhou, Yu-Jie YJ; Martin, Cesar C; Wang, Lu-Ya LY
Publication Date: 2016-11-10

Variant appearance in text: LDLR: Asp622Tyr
PubMed Link: 27830735
Variant Present in the following documents:
  • Main text
  • srep36823.pdf
View BVdb publication page



The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26

Variant appearance in text: LDLR: 1864G>T
PubMed Link: 26608663
Variant Present in the following documents:
  • Main text
  • srep17272.pdf
View BVdb publication page