LDLR c.2413_2414delinsCT ;(p.G805L)

Variant ID: 19-11240212-GG-CT

NM_000527.4(LDLR):c.2413_2414delinsCT;(p.G805L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

Febs Open Bio
Strøm, Thea Bismo TB; Tveten, Kristian K; Laerdahl, Jon K JK; Leren, Trond P TP
Publication Date: 2014

Variant appearance in text: LDLR: G805L
PubMed Link: 24918045
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page