Variant ID: 19-11213464-T-C

NM_000527.4(LDLR):c.313+2T>C

This variant was identified in 2 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: 313+2T>C
PubMed Link: 26036859
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: 313+2T>C
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.567+2T>C - splice_donor_variant - 3/17
ENST00000455727.2 c.313+2T>C - splice_donor_variant - 3/15
ENST00000535915.1 c.191-2432T>C - intron_variant - 2/16
ENST00000545707.1 c.313+2T>C - splice_donor_variant - 3/15
ENST00000557933.1 c.313+2T>C - splice_donor_variant - 3/17
ENST00000557958.1 n.401T>C - non_coding_transcript_exon_variant 3/3 -
ENST00000558013.1 c.313+2T>C - splice_donor_variant - 3/17
ENST00000558518.1 c.313+2T>C - splice_donor_variant - 3/17
NM_000527.5 c.313+2T>C - splice_donor_variant - 3/17
NM_001195798.2 c.313+2T>C - splice_donor_variant - 3/17
NM_001195799.2 c.191-2432T>C - intron_variant - 2/16
NM_001195800.2 c.313+2T>C - splice_donor_variant - 3/15
NM_001195803.2 c.313+2T>C - splice_donor_variant - 3/15