Variant ID: 1-55521773-CGC-TGG

NM_174936.3(PCSK9):c.907_909delinsTGG;(p.Arg303Trp)

This variant was identified in 1 publication



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

Publications:

Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson
Publication Date: 2018-12

Variant appearance in text: PCSK9: Arg303Trp
PubMed Link: 31106297
Variant Present in the following documents:
  • nihms-1512622.pdf
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.907_909delinsTGG p.Arg303Trp missense_variant 6/12 -
ENST00000490692.1 n.1728_1730delinsTGG - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.307_309delinsTGG p.Arg103Trp missense_variant 4/10 -
NM_174936.4 c.907_909delinsTGG p.Arg303Trp missense_variant 6/12 -
NR_110451.1 n.566_568delinsTGG - non_coding_transcript_exon_variant 4/10 -