Variant ID: 19-11231199-G-A

NM_000527.4(LDLR):c.2140+1G>A

This variant was identified in 4 publications




Publications:


Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson
Publication Date: 2018-12

Variant appearance in text: LDLR: 2140+1G>A; rs145787161
PubMed Link: 31106297
Variant Present in the following documents:
  • NIHMS1512622-supplement-002192_-_Supplemental_Material.pdf
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: 2140+1G>A
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

American Journal Of Human Genetics
LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, EM Lange, JD Smith, EH Turner, G Jun, HM Kang, G Peloso, P Auer, KP Li, J Flannick, J Zhang, C Fuchsberger, K Gaulton, C Lindgren, A Locke, A Manning, X Sim, MA Rivas, OL Holmen, O Gottesman, Y Lu, D Ruderfer, EA Stahl, Q Duan, Y Li, P Durda, S Jiao, A Isaacs, A Hofman, JC Bis, A Correa, ME Griswold, J Jakobsdottir, AV Smith, PJ Schreiner, MF Feitosa, Q Zhang, JE Huffman, J Crosby, CL Wassel, R Do, N Franceschini, LW Martin, JG Robinson, TL Assimes, DR Crosslin, EA Rosenthal, M Tsai, MJ Rieder, DN Farlow, AR Folsom, T Lumley, ER Fox, CS Carlson, U Peters, RD Jackson, CM van Duijn, AG Uitterlinden, D Levy, JI Rotter, HA Taylor, V Gudnason, DS Siscovick, M Fornage, IB Borecki, C Hayward, I Rudan, YE Chen, EP Bottinger, RJ Loos, P Sætrom, K Hveem, M Boehnke, L Groop, M McCarthy, T Meitinger, CM Ballantyne, SB Gabriel, CJ O'Donnell, WS Post, KE North, AP Reiner, E Boerwinkle, BM Psaty, D Altshuler, S Kathiresan, DY Lin, GP Jarvik, LA Cupples, C Kooperberg, JG Wilson, DA Nickerson, GR Abecasis, SS Rich, RP Tracy, CJ Willer,
Publication Date: 2014-02-06

Variant appearance in text: LDLR: 2140+1G>A
PubMed Link: 24507775
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: LDLR: 2140+1G>A
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2394+1G>A - splice_donor_variant - 14/17
ENST00000455727.2 c.1636+1G>A - splice_donor_variant - 12/15
ENST00000535915.1 c.2017+1G>A - splice_donor_variant - 13/16
ENST00000545707.1 c.1606+290G>A - intron_variant - 12/15
ENST00000557933.1 c.2140+1G>A - splice_donor_variant - 14/17
ENST00000558013.1 c.2140+1G>A - splice_donor_variant - 14/17
ENST00000558518.1 c.2140+1G>A - splice_donor_variant - 14/17
NM_000527.5 c.2140+1G>A - splice_donor_variant - 14/17
NM_001195798.2 c.2140+1G>A - splice_donor_variant - 14/17
NM_001195799.2 c.2017+1G>A - splice_donor_variant - 13/16
NM_001195800.2 c.1636+1G>A - splice_donor_variant - 12/15
NM_001195803.2 c.1606+290G>A - intron_variant - 12/15