Variant ID: 1-55527141-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: 1775G>A
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.1775G>A p.Arg592Lys missense_variant 11/12 -
ENST00000490692.1 n.2321G>A - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*322G>A - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1775G>A p.Arg592Lys missense_variant 11/12 -
NR_110451.1 n.1382G>A - non_coding_transcript_exon_variant 9/10 -