Variant ID: 1-55505552-A-ATG

NM_174936.3(PCSK9):c.42_43insTG;(p.Leu15Cysfs*30)

This variant was identified in 2 publications




Publications:


Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
MC Barboza-Cerda, O Barboza-Quintana, G Martínez-Aldape, R Garza-Guajardo, MA Déctor
Publication Date: 2019-09

Variant appearance in text: rs371488778
PMID: 31397093
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.42_43insTG p.Leu15Cysfs*30 frameshift_variant 1/12 -
ENST00000452118.2 c.42_43insTG p.Leu15Cysfs*30 frameshift_variant 1/6 -
NM_174936.4 c.42_43insTG p.Leu15Cysfs*30 frameshift_variant 1/12 -