Variant ID: 19-11226868-G-A

NM_000527.4(LDLR):c.1685G>A;(p.Trp562*)

This variant was identified in 3 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: 1685G>A; W562*
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: 1685G>A; W562X
PubMed Link: 23054246
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: 1685G>A; Trp562X
PubMed Link: 20809525
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
NM_001195798.2 c.1685G>A p.Trp562* stop_gained 11/18 -
ENST00000252444.5 c.1940G>A p.Trp647* stop_gained 11/18 -
ENST00000455727.2 c.1181G>A p.Trp394* stop_gained 9/16 -
ENST00000535915.1 c.1562G>A p.Trp521* stop_gained 10/17 -
ENST00000545707.1 c.1304G>A p.Trp435* stop_gained 10/16 -
ENST00000557933.1 c.1685G>A p.Trp562* stop_gained 11/18 -
ENST00000558013.1 c.1685G>A p.Trp562* stop_gained 11/18 -
ENST00000558518.1 c.1685G>A p.Trp562* stop_gained 11/18 -
ENST00000559340.1 c.407G>A p.Trp136* stop_gained,NMD_transcript_variant 3/5 -
NM_000527.5 c.1685G>A p.Trp562* stop_gained 11/18 -
NM_001195799.2 c.1562G>A p.Trp521* stop_gained 10/17 -
NM_001195800.2 c.1181G>A p.Trp394* stop_gained 9/16 -
NM_001195803.2 c.1304G>A p.Trp435* stop_gained 10/16 -