Variant ID: 19-11221435-C-T

NM_000527.4(LDLR):c.1048C>T;(p.Arg350*)

This variant was identified in 10 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: LDLR: 1048C>T; Arg350*; rs769737896
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Journal Of The American College Of Cardiology
AV Khera, H Mason-Suares, D Brockman, M Wang, MJ VanDenburgh, O Senol-Cosar, C Patterson, C Newton-Cheh, SM Zekavat, J Pester, DI Chasman, C Kabrhel, MK Jensen, JE Manson, JM Gaziano, KD Taylor, N Sotoodehnia, WS Post, SS Rich, JI Rotter, ES Lander, HL Rehm, K Ng, A Philippakis, M Lebo, CM Albert, S Kathiresan
Publication Date: 2019-11-26

Variant appearance in text: LDLR: Arg350Ter
PubMed Link: 31727422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan
Publication Date: 2016-06-07

Variant appearance in text: LDLR: Arg350Ter
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-WaluĊ›, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: LDLR: Arg350*
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
L Jiang, LY Sun, YF Dai, SW Yang, F Zhang, LY Wang
Publication Date: 2015-11-26

Variant appearance in text: LDLR: 1048C>T
PubMed Link: 26608663
Variant Present in the following documents:
  • srep17272-s1.doc
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: LDLR: Arg350*
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
  • aaaaaMain text
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz
Publication Date: 2015-02

Variant appearance in text: LDLR: R350*
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: LDLR: 1048C>T; R350*
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis
M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, F Karpe, HA Neil, , SE Humphries
Publication Date: 2013-07

Variant appearance in text: LDLR: 1048C>T; Arg350*
PubMed Link: 23669246
Variant Present in the following documents:
  • mmc1.docx
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: LDLR: R350X
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1303C>T p.Arg435* stop_gained 7/18 -
ENST00000455727.2 c.544C>T p.Arg182* stop_gained 5/16 -
ENST00000535915.1 c.925C>T p.Arg309* stop_gained 6/17 -
ENST00000545707.1 c.667C>T p.Arg223* stop_gained 6/16 -
ENST00000557933.1 c.1048C>T p.Arg350* stop_gained 7/18 -
ENST00000558013.1 c.1048C>T p.Arg350* stop_gained 7/18 -
ENST00000558518.1 c.1048C>T p.Arg350* stop_gained 7/18 -
ENST00000560173.1 n.47C>T - non_coding_transcript_exon_variant 1/3 -
ENST00000560467.1 c.541-755C>T - intron_variant - 3/5
NM_000527.5 c.1048C>T p.Arg350* stop_gained 7/18 -
NM_001195798.2 c.1048C>T p.Arg350* stop_gained 7/18 -
NM_001195799.2 c.925C>T p.Arg309* stop_gained 6/17 -
NM_001195800.2 c.544C>T p.Arg182* stop_gained 5/16 -
NM_001195803.2 c.667C>T p.Arg223* stop_gained 6/16 -