Variant ID: 1-55509561-G-A


This variant was identified in 1 publication


Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal
HN Kim, SS Kweon, MH Shin
Publication Date: 2018-01

Variant appearance in text: PCSK9: Glu85Lys
PubMed Link: 29399563
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.253G>A p.Glu85Lys missense_variant 2/12 -
ENST00000452118.2 c.253G>A p.Glu85Lys missense_variant 2/6 -
ENST00000543384.1 c.-78+3485G>A - intron_variant - 1/9
NM_174936.4 c.253G>A p.Glu85Lys missense_variant 2/12 -
NR_110451.1 n.182+3485G>A - intron_variant,non_coding_transcript_variant - 1/9