Variant ID: 19-11216275-C-G


This variant was identified in 3 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: 693C>G; Cys231Trp; rs121908035
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: 693C>G; Cys231Trp
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation
M Marduel, A Carrié, A Sassolas, M Devillers, V Carreau, M Di Filippo, D Erlich, M Abifadel, A Marques-Pinheiro, A Munnich, C Junien, , C Boileau, M Varret, JP Rabès
Publication Date: 2010-11

Variant appearance in text: LDLR: 693C>G; Cys231Trp
PubMed Link: 20809525
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.948C>G p.Cys316Trp missense_variant,splice_region_variant 4/18 -
ENST00000455727.2 c.314-1793C>G - intron_variant - 3/15
ENST00000535915.1 c.570C>G p.Cys190Trp missense_variant,splice_region_variant 3/17 -
ENST00000545707.1 c.314-966C>G - intron_variant - 3/15
ENST00000557933.1 c.693C>G p.Cys231Trp missense_variant,splice_region_variant 4/18 -
ENST00000558013.1 c.693C>G p.Cys231Trp missense_variant,splice_region_variant 4/18 -
ENST00000558518.1 c.693C>G p.Cys231Trp missense_variant,splice_region_variant 4/18 -
ENST00000560467.1 c.294C>G p.Cys98Trp missense_variant,splice_region_variant 1/6 -
NM_000527.5 c.693C>G p.Cys231Trp missense_variant,splice_region_variant 4/18 -
NM_001195798.2 c.693C>G p.Cys231Trp missense_variant,splice_region_variant 4/18 -
NM_001195799.2 c.570C>G p.Cys190Trp missense_variant,splice_region_variant 3/17 -
NM_001195800.2 c.314-1793C>G - intron_variant - 3/15
NM_001195803.2 c.314-966C>G - intron_variant - 3/15