Variant ID: 19-11227645-G-T

NM_000527.4(LDLR):c.1816G>T;(p.Ala606Ser)

This variant was identified in 6 publications




Publications:


Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports
U Galicia-Garcia, A Benito-Vicente, KB Uribe, S Jebari, A Larrea-Sebal, R Alonso-Estrada, J Aguilo-Arce, H Ostolaza, L Palacios, C Martin
Publication Date: 2020-02-03

Variant appearance in text: LDLR: Ala606Ser
PubMed Link: 32015373
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: Ala606Ser
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
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: A606S; rs72658865
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s008.docx
  • pgen.1004855.s013.docx
  • pgen.1004855.s014.docx
  • pgen.1004855.s018.docx
  • pgen.1004855.s019.xlsx
View BVdb publication page



Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics
PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman
Publication Date: 2014-06-23

Variant appearance in text: LDLR: 1816G>T; Ala606Ser
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
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: Ala606Ser
PubMed Link: 24507775
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics
MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, CJ Gallego, RL Bennett, KL Jones, MJ Tokita, JT Bennett, JH Kim, EA Rosenthal, DS Kim, , HK Tabor, MJ Bamshad, AG Motulsky, CR Scott, CC Pritchard, T Walsh, W Burke, WH Raskind, P Byers, FM Hisama, DA Nickerson, GP Jarvik
Publication Date: 2013-10-03

Variant appearance in text: LDLR: 1816G>T; Ala606Ser; rs72658865
PubMed Link: 24055113
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2071G>T p.Ala691Ser missense_variant 12/18 -
ENST00000455727.2 c.1312G>T p.Ala438Ser missense_variant 10/16 -
ENST00000535915.1 c.1693G>T p.Ala565Ser missense_variant 11/17 -
ENST00000545707.1 c.1435G>T p.Ala479Ser missense_variant 11/16 -
ENST00000557933.1 c.1816G>T p.Ala606Ser missense_variant 12/18 -
ENST00000558013.1 c.1816G>T p.Ala606Ser missense_variant 12/18 -
ENST00000558518.1 c.1816G>T p.Ala606Ser missense_variant 12/18 -
ENST00000559340.1 c.426+757G>T - intron_variant,NMD_transcript_variant - 3/4
NM_000527.5 c.1816G>T p.Ala606Ser missense_variant 12/18 -
NM_001195798.2 c.1816G>T p.Ala606Ser missense_variant 12/18 -
NM_001195799.2 c.1693G>T p.Ala565Ser missense_variant 11/17 -
NM_001195800.2 c.1312G>T p.Ala438Ser missense_variant 10/16 -
NM_001195803.2 c.1435G>T p.Ala479Ser missense_variant 11/16 -