Variant ID: 19-11224210-G-A

NM_000527.4(LDLR):c.1359-1G>A

This variant was identified in 4 publications




Publications:


Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: LDLR: 1359-1G>A
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.

Bmc Cardiovascular Disorders
I Brænne, B Reiz, A Medack, M Kleinecke, M Fischer, S Tuna, C Hengstenberg, P Deloukas, J Erdmann, H Schunkert,
Publication Date: 2014-08-26

Variant appearance in text: LDLR: 1359-1G>A
PubMed Link: 25154303
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.

European Journal Of Human Genetics : Ejhg
J Versmissen, DM Oosterveer, M Yazdanpanah, A Dehghan, H Hólm, J Erdman, YS Aulchenko, G Thorleifsson, H Schunkert, R Huijgen, R Vongpromek, AG Uitterlinden, JC Defesche, CM van Duijn, M Mulder, T Dadd, HD Karlsson, J Ordovas, I Kindt, A Jarman, A Hofman, L van Vark-van der Zee, AC Blommesteijn-Touw, J Kwekkeboom, AH Liem, FJ van der Ouderaa, S Calandra, S Bertolini, M Averna, G Langslet, L Ose, E Ros, F Almagro, PW de Leeuw, F Civeira, L Masana, X Pintó, ML Simoons, AF Schinkel, MR Green, AH Zwinderman, KJ Johnson, A Schaefer, A Neil, JC Witteman, SE Humphries, JJ Kastelein, EJ Sijbrands
Publication Date: 2015-03

Variant appearance in text: LDLR: 1359-1G>A
PubMed Link: 24916650
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.

Cholesterol
I Kindt, R Huijgen, M Boekel, KJ van der Gaag, JC Defesche, JJ Kastelein, P de Knijff
Publication Date: 2013

Variant appearance in text: LDLR: 1359-1G>A
PubMed Link: 23936638
Variant Present in the following documents:
  • 531658.f1.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1613-1G>A - splice_acceptor_variant - 9/17
ENST00000455727.2 c.855-1G>A - splice_acceptor_variant - 7/15
ENST00000535915.1 c.1236-1G>A - splice_acceptor_variant - 8/16
ENST00000545707.1 c.978-1G>A - splice_acceptor_variant - 8/15
ENST00000557933.1 c.1359-1G>A - splice_acceptor_variant - 9/17
ENST00000558013.1 c.1359-1G>A - splice_acceptor_variant - 9/17
ENST00000558518.1 c.1359-1G>A - splice_acceptor_variant - 9/17
ENST00000559340.1 c.80-1G>A - splice_acceptor_variant,NMD_transcript_variant - 1/4
ENST00000560467.1 c.839-1G>A - splice_acceptor_variant - 5/5
NM_000527.5 c.1359-1G>A - splice_acceptor_variant - 9/17
NM_001195798.2 c.1359-1G>A - splice_acceptor_variant - 9/17
NM_001195799.2 c.1236-1G>A - splice_acceptor_variant - 8/16
NM_001195800.2 c.855-1G>A - splice_acceptor_variant - 7/15
NM_001195803.2 c.978-1G>A - splice_acceptor_variant - 8/15
NR_106946.1 n.61G>A - non_coding_transcript_exon_variant 1/1 -