LDLR c.313+5G>A

Variant ID: 19-11213467-G-A

NM_000527.4(LDLR):c.313+5G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.

Advances In Therapy
Ben-Omran, Tawfeg T; Masana, Luis L; Kolovou, Genovefa G; Ariceta, Gema G; Nóvoa, F Javier FJ; Lund, Allan M AM; Bogsrud, Martin P MP; Araujo, María M; Hussein, Osamah O; Ibarretxe, Daiana D; Sanchez-Hernández, Rosa M RM; Santos, Raul D RD
Publication Date: 2019-07

Variant appearance in text: LDLR: 313+5G>A
PubMed Link: 31102204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Molecular Genetics & Genomic Medicine
Chan, Melody Lok-Yi ML; Cheung, Ching-Lung CL; Lee, Alan Chun-Hong AC; Yeung, Chun-Yip CY; Siu, Chung-Wah CW; Leung, Jenny Yin-Yan JY; Pang, Ho-Kwong HK; Tan, Kathryn Choon-Beng KC
Publication Date: 2019-02

Variant appearance in text: LDLR: 313+5G>A
PubMed Link: 30592178
Variant Present in the following documents:
  • Main text
  • MGG3-7-na.pdf
View BVdb publication page



The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Journal Of Medical Genetics
Leigh, Sarah S; Futema, Marta M; Whittall, Ros R; Taylor-Beadling, Alison A; Williams, Maggie M; den Dunnen, Johan T JT; Humphries, Steve E SE
Publication Date: 2017-04

Variant appearance in text: LDLR: 313+5G>A
PubMed Link: 27821657
Variant Present in the following documents:
  • Main text
  • jmedgenet-2016-104054.pdf
View BVdb publication page