Variant ID: 19-11222279-C-T

NM_000527.4(LDLR):c.1150C>T;(p.Gln384*)

This variant was identified in 4 publications




Publications:


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: 1150C>T; Q384*
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.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: 1150C>T; Q384X
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.

Clinical Chemistry
SE Humphries, RD Neely, RA Whittall, JS Troutt, RJ Konrad, M Scartezini, KW Li, JA Cooper, J Acharya, A Neil
Publication Date: 2009-12

Variant appearance in text: LDLR: Q384X
PubMed Link: 19797716
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterization of familial hypercholesterolemia in German and Greek patients.

Human Mutation
GV Dedoussis, J Genschel, B Bochow, C Pitsavos, J Skoumas, M Prassa, S Lkhagvasuren, P Toutouzas, A Vogt, U Kassner, HP Thomas, H Schmidt
Publication Date: 2004-03

Variant appearance in text: LDLR: 1150C>T; Q384X
PubMed Link: 14974088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1405C>T p.Gln469* stop_gained 8/18 -
ENST00000455727.2 c.646C>T p.Gln216* stop_gained 6/16 -
ENST00000535915.1 c.1027C>T p.Gln343* stop_gained 7/17 -
ENST00000545707.1 c.769C>T p.Gln257* stop_gained 7/16 -
ENST00000557933.1 c.1150C>T p.Gln384* stop_gained 8/18 -
ENST00000558013.1 c.1150C>T p.Gln384* stop_gained 8/18 -
ENST00000558518.1 c.1150C>T p.Gln384* stop_gained 8/18 -
ENST00000560173.1 n.149C>T - non_coding_transcript_exon_variant 2/3 -
ENST00000560467.1 c.631C>T p.Gln211* stop_gained 4/6 -
NM_000527.5 c.1150C>T p.Gln384* stop_gained 8/18 -
NM_001195798.2 c.1150C>T p.Gln384* stop_gained 8/18 -
NM_001195799.2 c.1027C>T p.Gln343* stop_gained 7/17 -
NM_001195800.2 c.646C>T p.Gln216* stop_gained 6/16 -
NM_001195803.2 c.769C>T p.Gln257* stop_gained 7/16 -