Variant ID: 19-11222279-C-T

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

This variant was identified in 2 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



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 -