LDLR c.383G>T ;(p.C128F)

Variant ID: 19-11215965-G-T

NM_000527.4(LDLR):c.383G>T;(p.C128F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: LDLR: C128F
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation
Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP
Publication Date: 2010-11

Variant appearance in text: LDLR: 383G>T; Cys128Phe
PubMed Link: 20809525
Variant Present in the following documents:
  • Main text
  • humu0031-E1811.pdf
View BVdb publication page