LDLR c.1845G>A ;(p.E615=)

Variant ID: 19-11227674-G-A

NM_000527.4(LDLR):c.1845G>A;(p.E615=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology
Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ
Publication Date: 2021-08-01

Variant appearance in text: LDLR: 1845G>A
PubMed Link: 34037665
Variant Present in the following documents:
  • jamacardiol-e211301-s001.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: 1845G>A; Glu615=
PubMed Link: 27821657
Variant Present in the following documents:
  • Main text
  • jmedgenet-2016-104054.pdf
View BVdb publication page