Variant ID: 2-21224815-GCTG-G

NM_000384.2(APOB):c.13480_13482del;(p.Gln4494del)

This variant was identified in 7 publications




Publications:


Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov
Publication Date: 2021-01

Variant appearance in text: APOB: 13480_13482delCAG; Gln4494del
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Clinical Genetics
L Rieck, F Bardey, T Grenkowitz, L Bertram, J Helmuth, C Mischung, J Spranger, E Steinhagen-Thiessen, T Bobbert, U Kassner, I Demuth
Publication Date: 2020-11

Variant appearance in text: APOB: 13480_13482delCAG
PubMed Link: 32770674
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
YC Hou, HC Yu, R Martin, ET Cirulli, NM Schenker-Ahmed, M Hicks, IV Cohen, TJ Jönsson, R Heister, L Napier, CL Swisher, S Dominguez, H Tang, W Li, BA Perkins, J Barea, C Rybak, E Smith, K Duchicela, M Doney, P Brar, N Hernandez, EF Kirkness, AM Kahn, JC Venter, DS Karow, CT Caskey
Publication Date: 2020-02-11

Variant appearance in text: APOB: 13480_13482delCAG
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sapp.pdf
View BVdb publication page



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: Gln4494del
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: Gln4494del
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: 13480_13482delCAG; Gln4494del
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: 13480_13482delCAG; Gln4494del
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.13476_13478del p.His4492del inframe_deletion 29/29 -
NM_000384.3 c.13476_13478del p.His4492del inframe_deletion 29/29 -