Variant ID: 1-55505610-G-A

NM_174936.3(PCSK9):c.100G>A;(p.Glu34Lys)

This variant was identified in 1 publication




Publications:


Nuclease-Mediated Gene Therapies for Inherited Metabolic Diseases of the Liver.

The Yale Journal Of Biology And Medicine
TE Bryson, CM Anglin, PH Bridges, RN Cottle
Publication Date: 2017-12

Variant appearance in text: PCSK9: Glu34Lys
PMID: 29259521
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.100G>A p.Glu34Lys missense_variant 1/12 -
ENST00000452118.2 c.100G>A p.Glu34Lys missense_variant 1/6 -
NM_174936.4 c.100G>A p.Glu34Lys missense_variant 1/12 -