LDLR c.285C>G ;(p.C95W)

Variant ID: 19-11213434-C-G

NM_000527.4(LDLR):c.285C>G;(p.C95W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Frontiers In Genetics
Moradi, Arman A; Maleki, Majid M; Ghaemmaghami, Zahra Z; Khajali, Zahra Z; Noohi, Feridoun F; Moghadam, Maryam Hosseini MH; Kalyinia, Samira S; Mowla, Seyed Javad SJ; Seidah, Nabil G NG; Malakootian, Mahshid M
Publication Date: 2021

Variant appearance in text: LDLR: 285C>G
PubMed Link: 33732287
Variant Present in the following documents:
  • Main text
  • fgene-12-625959.pdf
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: 285C>G; C95W
PubMed Link: 30400955
Variant Present in the following documents:
  • Main text
  • 12944_2018_Article_900.pdf
View BVdb publication page



Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

Iranian Biomedical Journal
Ekrami, Mahdis M; Torabi, Maryam M; Ghafouri-Fard, Soudeh S; Mowla, Javad J; Mohammad Soltani, Bahram B; Hashemi-Gorji, Feyzollah F; Mohebbi, Zahra Z; Miryounesi, Mohammad M
Publication Date: 2018-03

Variant appearance in text: LDLR: 285C>G; C95W
PubMed Link: 28734274
Variant Present in the following documents:
  • Main text
  • IBJ-22-117.pdf
View BVdb publication page