Variant ID: 1-55524243-C-T


This variant was identified in 1 publication


The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
A Kamar, A Khalil, G Nemer
Publication Date: 2020

Variant appearance in text: PCSK9: Arg476Cys
PubMed Link: 33519890
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1426C>T p.Arg476Cys missense_variant 9/12 -
ENST00000490692.1 n.2150C>T - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.774C>T p.Pro258= synonymous_variant 7/10 -
NM_174936.4 c.1426C>T p.Arg476Cys missense_variant 9/12 -
NR_110451.1 n.1033C>T - non_coding_transcript_exon_variant 7/10 -