Variant ID: 1-55521770-C-T

NM_174936.3(PCSK9):c.904C>T;(p.Gln302*)

This variant was identified in 1 publication



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

Publications:

In Vivo Base Editing of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) as a Therapeutic Alternative to Genome Editing.

Arteriosclerosis, Thrombosis, And Vascular Biology
AC Chadwick, X Wang, K Musunuru
Publication Date: 2017-09

Variant appearance in text: PCSK9: Q302X
PMID: 28751571
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.904C>T p.Gln302* stop_gained 6/12 -
ENST00000490692.1 n.1725C>T - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.304C>T p.Gln102* stop_gained 4/10 -
NM_174936.4 c.904C>T p.Gln302* stop_gained 6/12 -
NR_110451.1 n.563C>T - non_coding_transcript_exon_variant 4/10 -