Variant ID: 2-21238259-C-G

NM_000384.2(APOB):c.3491G>C;(p.Arg1164Thr)

This variant was identified in 4 publications




Publications:


New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports
S Elbitar, D Susan-Resiga, Y Ghaleb, P El Khoury, G Peloso, N Stitziel, JP Rabès, V Carreau, J Hamelin, A Ben-Djoudi-Ouadda, E Bruckert, C Boileau, NG Seidah, M Varret, M Abifadel
Publication Date: 2018-01-31

Variant appearance in text: APOB: Arg1164Thr
PubMed Link: 29386597
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Architecture of Familial Hypercholesterolaemia.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2017-05

Variant appearance in text: APOB: Arg1164Thr
PubMed Link: 28405938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Scientific Reports
JA Fernández-Higuero, A Etxebarria, A Benito-Vicente, AC Alves, JL Arrondo, H Ostolaza, M Bourbon, C Martin
Publication Date: 2015-12-08

Variant appearance in text: APOB: 3491G>C; Arg1164Thr
PubMed Link: 26643808
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

Human Molecular Genetics
AC Alves, A Etxebarria, AK Soutar, C Martin, M Bourbon
Publication Date: 2014-04-01

Variant appearance in text: APOB: Arg1164Thr
PubMed Link: 24234650
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.3491G>C p.Arg1164Thr missense_variant 22/29 -
NM_000384.3 c.3491G>C p.Arg1164Thr missense_variant 22/29 -