Variant ID: 1-55505712-CG-C

NM_174936.3(PCSK9):c.202del;(p.Ala68Profs*15)

This variant was identified in 2 publications




Publications:


Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
N Ferri
Publication Date: 2012

Variant appearance in text: PCSK9: 202delG
PMID: 24278757
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: A68PfsX15
PMID: 21862702
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.204del p.Lys69Argfs*14 frameshift_variant 1/12 -
ENST00000452118.2 c.204del p.Lys69Argfs*14 frameshift_variant 1/6 -
NM_174936.4 c.204del p.Lys69Argfs*14 frameshift_variant 1/12 -