Variant ID: 1-55512214-G-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: 418G>T
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.418G>T p.Val140Phe missense_variant 3/12 -
ENST00000452118.2 c.418G>T p.Val140Phe missense_variant 3/6 -
ENST00000543384.1 c.-77-5737G>T - intron_variant - 1/9
NM_174936.4 c.418G>T p.Val140Phe missense_variant 3/12 -
NR_110451.1 n.183-5737G>T - intron_variant,non_coding_transcript_variant - 1/9