LDLR c.558T>A ;(p.G186=)

Variant ID: 19-11216140-T-A

NM_000527.4(LDLR):c.558T>A;(p.G186=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: LDLR: G186G
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
Kusters, D M DM; Huijgen, R R; Defesche, J C JC; Vissers, M N MN; Kindt, I I; Hutten, B A BA; Kastelein, J J P JJ
Publication Date: 2011-04

Variant appearance in text: LDLR: G186G
PubMed Link: 21475731
Variant Present in the following documents:
  • Main text
View BVdb publication page