Variant ID: 1-55523874-A-T

NM_174936.3(PCSK9):c.1346A>T;(p.His449Leu)

This variant was identified in 1 publication




Publications:


The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Pharmacological Reviews
NG Seidah, M Abifadel, S Prost, C Boileau, A Prat
Publication Date: 2017-01

Variant appearance in text: PCSK9: H449L
PubMed Link: 27920219
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1346A>T p.His449Leu missense_variant 8/12 -
ENST00000490692.1 n.2070A>T - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.702+44A>T - intron_variant - 6/9
NM_174936.4 c.1346A>T p.His449Leu missense_variant 8/12 -
NR_110451.1 n.961+44A>T - intron_variant,non_coding_transcript_variant - 6/9