Variant ID: 2-21252820-T-C

NM_000384.2(APOB):c.1420A>G;(p.Ile474Val)

This variant was identified in 8 publications




Publications:


PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: APOB: I474V
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology
RN Pitts, RH Eckel
Publication Date: 2014-12

Variant appearance in text: APOB: I474V
PubMed Link: 30310488
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins
Publication Date: 2015-09-28

Variant appearance in text: APOB: Ile474Val
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
View BVdb publication page



Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics
A Jelassi, M Najah, A Slimani, I Jguirim, MN Slimane, M Varret
Publication Date: 2013-03

Variant appearance in text: APOB: 1420A>G; Ile474Val
PubMed Link: 23997648
Variant Present in the following documents:
  • Main text
View BVdb publication page



Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.

Clinical Chemistry
SE Humphries, RD Neely, RA Whittall, JS Troutt, RJ Konrad, M Scartezini, KW Li, JA Cooper, J Acharya, A Neil
Publication Date: 2009-12

Variant appearance in text: APOB: I474V
PubMed Link: 19797716
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

European Journal Of Human Genetics : Ejhg
CL Snozek, SA Lagerstedt, TK Khoo, M Rubenfire, WL Isley, LJ Train, LM Baudhuin
Publication Date: 2009-01

Variant appearance in text: APOB: Ile474Val
PubMed Link: 18648394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: APOB: 1420A>G; I474V
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page



A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.

Journal Of The American College Of Cardiology
SN Chen, CM Ballantyne, AM Gotto, Y Tan, JT Willerson, AJ Marian
Publication Date: 2005-05-17

Variant appearance in text: APOB: I474V
PubMed Link: 15893176
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.1420A>G p.Ile474Val missense_variant 11/29 -
ENST00000399256.4 c.1420A>G p.Ile474Val missense_variant 11/17 -
NM_000384.3 c.1420A>G p.Ile474Val missense_variant 11/29 -