Variant ID: 1-55505553-C-CCTG

NM_174936.3(PCSK9):c.43_44insCTG;(p.Leu15delinsProVal)

This variant was identified in 1 publication




Publications:


Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Orphanet Journal Of Rare Diseases
A Georges, J Bonneau, D Bonnefont-Rousselot, J Champigneulle, JP Rab├Ęs, M Abifadel, T Aparicio, JC Guenedet, E Bruckert, C Boileau, A Morali, M Varret, LP Aggerbeck, ME Samson-Bouma
Publication Date: 2011-01-14

Variant appearance in text: PCSK9: 43_44insCTG
PMID: 21235735
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.43_44insCTG p.Leu15delinsProVal protein_altering_variant 1/12 -
ENST00000452118.2 c.43_44insCTG p.Leu15delinsProVal protein_altering_variant 1/6 -
NM_174936.4 c.43_44insCTG p.Leu15delinsProVal protein_altering_variant 1/12 -