LDLR c.914G>C ;(p.W305S)

Variant ID: 19-11218164-G-C

NM_000527.4(LDLR):c.914G>C;(p.W305S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.

Jacc. Basic To Translational Science
Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Fernandez-Higuero, José A JA; Jebari-Benslaiman, Shifa S; Galicia-Garcia, Unai U; Uribe, Kepa B KB; Cenarro, Ana A; Ostolaza, Helena H; Civeira, Fernando F; Arrasate, Sonia S; González-Díaz, Humberto H; Martín, César C
Publication Date: 2021-11

Variant appearance in text: LDLR: 914G>C; Trp305Ser
PubMed Link: 34869944
Variant Present in the following documents:
  • main.pdf
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: 914G>C; Trp305Ser
PubMed Link: 20809525
Variant Present in the following documents:
  • Main text
  • humu0031-E1811.pdf
View BVdb publication page