Variant ID: 1-55505562-CT-GA

NM_174936.3(PCSK9):c.52_53delinsGA;(p.Leu18Glu)

This variant was identified in 1 publication




Publications:


Genome reconstruction of the non-culturable spinach downy mildew Peronospora effusa by metagenome filtering.

Plos One
J Klein, M Neilen, M van Verk, BE Dutilh, G Van den Ackerveken
Publication Date: 2020

Variant appearance in text: FH3: L18e
PubMed Link: 32396560
Variant Present in the following documents:
  • pone.0225808.s015.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.52_53delinsGA p.Leu18Glu missense_variant 1/12 -
ENST00000452118.2 c.52_53delinsGA p.Leu18Glu missense_variant 1/6 -
NM_174936.4 c.52_53delinsGA p.Leu18Glu missense_variant 1/12 -
- - TF_binding_site_variant - -