Variant ID: 1-55505652-CG-C

NM_174936.3(PCSK9):c.142del;(p.Glu48Argfs*35)

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: 142delG
PMID: 21235735
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.143del p.Glu48Glyfs*35 frameshift_variant 1/12 -
ENST00000452118.2 c.143del p.Glu48Glyfs*35 frameshift_variant 1/6 -
NM_174936.4 c.143del p.Glu48Glyfs*35 frameshift_variant 1/12 -