Variant ID: 19-11210979-G-T

NM_000527.4(LDLR):c.148G>T;(p.Ala50Ser)

This variant was identified in 6 publications




Publications:


Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
AS Geller, EY Polisecki, MR Diffenderfer, BF Asztalos, SK Karathanasis, RA Hegele, EJ Schaefer
Publication Date: 2018-12

Variant appearance in text: LDLR: 148G>T; A50S
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
  • jlrM088203.pdf
View BVdb publication page



Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg
MS Safarova, EW Klee, LM Baudhuin, EM Winkler, ML Kluge, SJ Bielinski, JE Olson, IJ Kullo
Publication Date: 2017-04

Variant appearance in text: LDLR: 148G>T; Ala50Ser; rs137853960
PubMed Link: 28145427
Variant Present in the following documents:
  • Main text
  • ejhg2016193x1.docx
  • ejhg2016193x2.xlsx
  • ejhg2016193x6.pdf
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
E Olfson, CE Cottrell, NO Davidson, CA Gurnett, JW Heusel, NO Stitziel, LS Chen, S Hartz, R Nagarajan, NL Saccone, LJ Bierut
Publication Date: 2015

Variant appearance in text: LDLR: 148G>T; Ala50Ser; rs137853960
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls
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: Ala50Ser
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: Ala50Ser
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: 148G>T; Ala50Ser; rs137853960
PubMed Link: 24055113
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.403G>T p.Ala135Ser missense_variant 2/18 -
ENST00000455727.2 c.148G>T p.Ala50Ser missense_variant 2/16 -
ENST00000535915.1 c.148G>T p.Ala50Ser missense_variant 2/17 -
ENST00000545707.1 c.148G>T p.Ala50Ser missense_variant 2/16 -
ENST00000557933.1 c.148G>T p.Ala50Ser missense_variant 2/18 -
ENST00000557958.1 n.234G>T - non_coding_transcript_exon_variant 2/3 -
ENST00000558013.1 c.148G>T p.Ala50Ser missense_variant 2/18 -
ENST00000558518.1 c.148G>T p.Ala50Ser missense_variant 2/18 -
ENST00000560502.1 n.234G>T - non_coding_transcript_exon_variant 2/2 -
NM_000527.5 c.148G>T p.Ala50Ser missense_variant 2/18 -
NM_001195798.2 c.148G>T p.Ala50Ser missense_variant 2/18 -
NM_001195799.2 c.148G>T p.Ala50Ser missense_variant 2/17 -
NM_001195800.2 c.148G>T p.Ala50Ser missense_variant 2/16 -
NM_001195803.2 c.148G>T p.Ala50Ser missense_variant 2/16 -