Variant ID: 1-241669379-G-T

NM_000143.3(FH):c.828C>A;(p.Gly276Gly)

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: FH: 828C>A
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366560.3 c.828C>A p.Gly276= synonymous_variant 6/10 -
NM_000143.3 c.828C>A p.Gly276= synonymous_variant 6/10 -