Variant ID: 1-55505557-T-TTCT

NM_174936.3(PCSK9):c.47_48insTCT;(p.Leu23dup)

This variant was identified in 2 publications




Publications:


The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Pharmacological Reviews
NG Seidah, M Abifadel, S Prost, C Boileau, A Prat
Publication Date: 2017-01

Variant appearance in text: PCSK9: L15_L16insL
PubMed Link: 27920219
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Human Mutation
M Abifadel, JP Rab├Ęs, M Devillers, A Munnich, D Erlich, C Junien, M Varret, C Boileau
Publication Date: 2009-04

Variant appearance in text: PCSK9: L15_L16insL
PubMed Link: 19191301
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.47_48insTCT p.Leu23dup inframe_insertion 1/12 -
ENST00000452118.2 c.47_48insTCT p.Leu23dup inframe_insertion 1/6 -
NM_174936.4 c.47_48insTCT p.Leu23dup inframe_insertion 1/12 -