Variant ID: 1-55523812-G-A

NM_174936.3(PCSK9):c.1284G>A;(p.Trp428*)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

Publications:

PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
PY Zhang
Publication Date: 2017-03

Variant appearance in text: PCSK9: W428X
PMID: 28450903
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1284G>A p.Trp428* stop_gained 8/12 -
ENST00000490692.1 n.2008G>A - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.684G>A p.Trp228* stop_gained 6/10 -
NM_174936.4 c.1284G>A p.Trp428* stop_gained 8/12 -
NR_110451.1 n.943G>A - non_coding_transcript_exon_variant 6/10 -