Variant ID: 1-55525202-G-A

NM_174936.3(PCSK9):c.1547G>A;(p.Gly516Glu)

This variant was identified in 1 publication




Publications:


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: 1547G>A; Gly516Asp
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1547G>A p.Gly516Glu missense_variant 10/12 -
ENST00000490692.1 n.2227+882G>A - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*94G>A - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1547G>A p.Gly516Glu missense_variant 10/12 -
NR_110451.1 n.1154G>A - non_coding_transcript_exon_variant 8/10 -