Variant ID: 1-55523819-G-T

NM_174936.3(PCSK9):c.1291G>T;(p.Glu431*)

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:

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
M Alver, M Palover, A Saar, K Läll, SM Zekavat, N Tõnisson, L Leitsalu, A Reigo, T Nikopensius, T Ainla, M Kals, R Mägi, SB Gabriel, J Eha, ES Lander, A Irs, A Philippakis, T Marandi, P Natarajan, A Metspalu, S Kathiresan, T Esko
Publication Date: 2019-05

Variant appearance in text: PCSK9: 1291G>T
PubMed Link: 30270359
Variant Present in the following documents:
  • 41436_2018_311_MOESM6_ESM.pdf
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1291G>T p.Glu431* stop_gained 8/12 -
ENST00000490692.1 n.2015G>T - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.691G>T p.Glu231* stop_gained 6/10 -
NM_174936.4 c.1291G>T p.Glu431* stop_gained 8/12 -
NR_110451.1 n.950G>T - non_coding_transcript_exon_variant 6/10 -