Variant ID: 19-11213381-C-T

NM_000527.4(LDLR):c.232C>T;(p.Arg78Cys)

This variant was identified in 2 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: 232C>T; Arg78Cys; rs370860696
PubMed Link: 31106297
Variant Present in the following documents:
  • NIHMS1512622-supplement-002192_-_Supplemental_Material.pdf
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: 232C>T; Arg78Cys
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.487C>T p.Arg163Cys missense_variant 3/18 -
ENST00000455727.2 c.232C>T p.Arg78Cys missense_variant 3/16 -
ENST00000535915.1 c.190+2360C>T - intron_variant - 2/16
ENST00000545707.1 c.232C>T p.Arg78Cys missense_variant 3/16 -
ENST00000557933.1 c.232C>T p.Arg78Cys missense_variant 3/18 -
ENST00000557958.1 n.318C>T - non_coding_transcript_exon_variant 3/3 -
ENST00000558013.1 c.232C>T p.Arg78Cys missense_variant 3/18 -
ENST00000558518.1 c.232C>T p.Arg78Cys missense_variant 3/18 -
NM_000527.5 c.232C>T p.Arg78Cys missense_variant 3/18 -
NM_001195798.2 c.232C>T p.Arg78Cys missense_variant 3/18 -
NM_001195799.2 c.190+2360C>T - intron_variant - 2/16
NM_001195800.2 c.232C>T p.Arg78Cys missense_variant 3/16 -
NM_001195803.2 c.232C>T p.Arg78Cys missense_variant 3/16 -