Variant ID: 1-55509593-C-A


This variant was identified in 1 publication


Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
FM Zakharova, D Damgaard, MY Mandelshtam, VI Golubkov, PH Nissen, GG Nilsen, A Stenderup, BM Lipovetsky, VO Konstantinov, AD Denisenko, VB Vasilyev, O Faergeman
Publication Date: 2005-02-08

Variant appearance in text: PCSK9: 285C>A
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.285C>A p.Ala95= synonymous_variant 2/12 -
ENST00000452118.2 c.285C>A p.Ala95= synonymous_variant 2/6 -
ENST00000543384.1 c.-78+3517C>A - intron_variant - 1/9
NM_174936.4 c.285C>A p.Ala95= synonymous_variant 2/12 -
NR_110451.1 n.182+3517C>A - intron_variant,non_coding_transcript_variant - 1/9