Variant ID: 1-55523033-A-G

NM_174936.3(PCSK9):c.1026A>G;(p.Gln342Gln)

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:

Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine
CE Vlad, LG Foia, R Popescu, I Popa, R Aanicai, D Reurean-Pintilei, V Toma, L Florea, M Kanbay, A Covic
Publication Date: 2021-03-31

Variant appearance in text: PCSK9: 1026A>G; Gln342=
PubMed Link: 33807407
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1026A>G p.Gln342= synonymous_variant 7/12 -
ENST00000490692.1 n.1818-68A>G - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.426A>G p.Gln142= synonymous_variant 5/10 -
NM_174936.4 c.1026A>G p.Gln342= synonymous_variant 7/12 -
NR_110451.1 n.685A>G - non_coding_transcript_exon_variant 5/10 -