Variant ID: 1-55518287-G-C


This variant was identified in 1 publication


A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.

The Journal Of Clinical Endocrinology And Metabolism
S Blesa, S Vernia, AB Garcia-Garcia, S Martinez-Hervas, C Ivorra, V Gonzalez-Albert, JF Ascaso, JC Martín-Escudero, JT Real, R Carmena, M Casado, FJ Chaves
Publication Date: 2008-09

Variant appearance in text: rs11800265
PubMed Link: 18559913
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.658-36G>C - intron_variant - 4/11
ENST00000452118.2 c.*302-36G>C - intron_variant - 5/5
ENST00000490692.1 n.1479-36G>C - intron_variant,non_coding_transcript_variant - 1/7
ENST00000543384.1 c.58-36G>C - intron_variant - 2/9
NM_174936.4 c.658-36G>C - intron_variant - 4/11
NR_110451.1 n.317-36G>C - intron_variant,non_coding_transcript_variant - 2/9