Variant ID: 1-55529180-A-G

NM_174936.3(PCSK9):c.2002A>G;(p.Ser668Gly)

This variant was identified in 1 publication




Publications:


Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.

Frontiers In Medicine
D Primorac, L Odak, V Perić, J Ćatić, J Šikić, V Radeljić, Š Manola, R Nussbaum, M Vatta, S Aradhya, T Sofrenović, V Matišić, V Molnar, A Skelin, J Mirat, J Brachmann
Publication Date: 2021

Variant appearance in text: PCSK9: 2002A>G; Ser668Gly
PubMed Link: 33829027
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2002A>G p.Ser668Gly missense_variant 12/12 -
ENST00000490692.1 n.2548A>G - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2002A>G p.Ser668Gly missense_variant 12/12 -
NR_110451.1 n.1609A>G - non_coding_transcript_exon_variant 10/10 -