LDLR c.4G>C ;(p.G2R)

Variant ID: 19-11200228-G-C

NM_000527.4(LDLR):c.4G>C;(p.G2R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2016-12

Variant appearance in text: LDLR: 4G>C
PubMed Link: 27777316
Variant Present in the following documents:
  • Main text
View BVdb publication page



A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Nature Communications
Ferrari, Anthony A; Vincent-Salomon, Anne A; Pivot, Xavier X; Sertier, Anne-Sophie AS; Thomas, Emilie E; Tonon, Laurie L; Boyault, Sandrine S; Mulugeta, Eskeatnaf E; Treilleux, Isabelle I; MacGrogan, Gaëtan G; Arnould, Laurent L; Kielbassa, Janice J; Le Texier, Vincent V; Blanché, Hélène H; Deleuze, Jean-François JF; Jacquemier, Jocelyne J; Mathieu, Marie-Christine MC; Penault-Llorca, Frédérique F; Bibeau, Frédéric F; Mariani, Odette O; Mannina, Cécile C; Pierga, Jean-Yves JY; Trédan, Olivier O; Bachelot, Thomas T; Bonnefoi, Hervé H; Romieu, Gilles G; Fumoleau, Pierre P; Delaloge, Suzette S; Rios, Maria M; Ferrero, Jean-Marc JM; Tarpin, Carole C; Bouteille, Catherine C; Calvo, Fabien F; Gut, Ivo Glynne IG; Gut, Marta M; Martin, Sancha S; Nik-Zainal, Serena S; Stratton, Michael R MR; Pauporté, Iris I; Saintigny, Pierre P; Birnbaum, Daniel D; Viari, Alain A; Thomas, Gilles G
Publication Date: 2016-07-13

Variant appearance in text: LDLR: 4G>C; Gly2Arg
PubMed Link: 27406316
Variant Present in the following documents:
  • ncomms12222-s3.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs5931
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page