Variant ID: 1-55518335-G-A


This variant was identified in 1 publication


Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
AM Medeiros, AC Alves, M Bourbon
Publication Date: 2016-04

Variant appearance in text: PCSK9: Asp224Asn
PubMed Link: 26020417
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.670G>A p.Asp224Asn missense_variant 5/12 -
ENST00000452118.2 c.*314G>A - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1491G>A - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.70G>A p.Asp24Asn missense_variant 3/10 -
NM_174936.4 c.670G>A p.Asp224Asn missense_variant 5/12 -
NR_110451.1 n.329G>A - non_coding_transcript_exon_variant 3/10 -