Variant ID: 19-11217355-G-C

NM_000527.4(LDLR):c.809G>C;(p.Cys270Ser)

This variant was identified in 1 publication




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: C270S
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1064G>C p.Cys355Ser missense_variant 5/18 -
ENST00000455727.2 c.314-713G>C - intron_variant - 3/15
ENST00000535915.1 c.686G>C p.Cys229Ser missense_variant 4/17 -
ENST00000545707.1 c.428G>C p.Cys143Ser missense_variant 4/16 -
ENST00000557933.1 c.809G>C p.Cys270Ser missense_variant 5/18 -
ENST00000558013.1 c.809G>C p.Cys270Ser missense_variant 5/18 -
ENST00000558518.1 c.809G>C p.Cys270Ser missense_variant 5/18 -
ENST00000558528.1 n.324G>C - non_coding_transcript_exon_variant 1/2 -
ENST00000560467.1 c.410G>C p.Cys137Ser missense_variant 2/6 -
NM_000527.5 c.809G>C p.Cys270Ser missense_variant 5/18 -
NM_001195798.2 c.809G>C p.Cys270Ser missense_variant 5/18 -
NM_001195799.2 c.686G>C p.Cys229Ser missense_variant 4/17 -
NM_001195800.2 c.314-713G>C - intron_variant - 3/15
NM_001195803.2 c.428G>C p.Cys143Ser missense_variant 4/16 -