Variant ID: 19-11218138-C-A

NM_000527.4(LDLR):c.888C>A;(p.Cys296*)

This variant was identified in 4 publications




Publications:


Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov
Publication Date: 2021-01

Variant appearance in text: LDLR: 888C>A; Cys296*; rs879254708
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan
Publication Date: 2016-06-07

Variant appearance in text: LDLR: Cys296Ter
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine
C Maglio, RM Mancina, BM Motta, M Stef, C Pirazzi, L Palacios, N Askaryar, J Borén, O Wiklund, S Romeo
Publication Date: 2014-10

Variant appearance in text: LDLR: Cys296x
PubMed Link: 24785115
Variant Present in the following documents:
  • joim0276-0396-sd1.doc
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: LDLR: C296X
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1143C>A p.Cys381* stop_gained 6/18 -
ENST00000455727.2 c.384C>A p.Cys128* stop_gained 4/16 -
ENST00000535915.1 c.765C>A p.Cys255* stop_gained 5/17 -
ENST00000545707.1 c.507C>A p.Cys169* stop_gained 5/16 -
ENST00000557933.1 c.888C>A p.Cys296* stop_gained 6/18 -
ENST00000558013.1 c.888C>A p.Cys296* stop_gained 6/18 -
ENST00000558518.1 c.888C>A p.Cys296* stop_gained 6/18 -
ENST00000558528.1 n.403C>A - non_coding_transcript_exon_variant 2/2 -
ENST00000560467.1 c.489C>A p.Cys163* stop_gained 3/6 -
NM_000527.5 c.888C>A p.Cys296* stop_gained 6/18 -
NM_001195798.2 c.888C>A p.Cys296* stop_gained 6/18 -
NM_001195799.2 c.765C>A p.Cys255* stop_gained 5/17 -
NM_001195800.2 c.384C>A p.Cys128* stop_gained 4/16 -
NM_001195803.2 c.507C>A p.Cys169* stop_gained 5/16 -