LDLR c.940+775G>A

Variant ID: 19-11218965-G-A

NM_000527.4(LDLR):c.940+775G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Genes
Abdul Murad, Nor Azian NA; Mohammad Noor, Yusuf Y; Mohd Rani, Zam Zureena ZZ; Sulaiman, Siti Aishah SA; Chow, Yock Ping YP; Abdullah, Noraidatulakma N; Ahmad, Norfazilah N; Ismail, Norliza N; Abdul Jalal, Nazihah N; Kamaruddin, Mohd Arman MA; Saperi, Amalia Afzan AA; Jamal, Rahman R
Publication Date: 2023-03-15

Variant appearance in text: rs2569556
PubMed Link: 36980993
Variant Present in the following documents:
  • Main text
  • genes-14-00721.pdf
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Moldovan, Valeriu V; Banescu, Claudia C; Dobreanu, Minodora M
Publication Date: 2020-02

Variant appearance in text: rs2569556
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
  • AJC-23-120.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2569556
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.

Plos One
Lye, Say-Hean SH; Chahil, Jagdish Kaur JK; Bagali, Pramod P; Alex, Livy L; Vadivelu, Jamunarani J; Ahmad, Wan Azman Wan WA; Chan, Siew-Pheng SP; Thong, Meow-Keong MK; Zain, Shamsul Mohd SM; Mohamed, Rosmawati R
Publication Date: 2013

Variant appearance in text: rs2569556
PubMed Link: 23593297
Variant Present in the following documents:
  • Main text
  • pone.0060729.pdf
View BVdb publication page