Variant ID: 1-55523103-G-A

NM_174936.3(PCSK9):c.1096G>A;(p.Glu366Lys)

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:

Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
Publication Date: 2019-01-29

Variant appearance in text: PCSK9: Glu366Lys
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1096G>A p.Glu366Lys missense_variant 7/12 -
ENST00000490692.1 n.1820G>A - splice_region_variant,non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.496G>A p.Glu166Lys missense_variant 5/10 -
NM_174936.4 c.1096G>A p.Glu366Lys missense_variant 7/12 -
NR_110451.1 n.755G>A - non_coding_transcript_exon_variant 5/10 -