Variant ID: 1-55512316-C-T


This variant was identified in 1 publication


Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics
A Jelassi, M Najah, A Slimani, I Jguirim, MN Slimane, M Varret
Publication Date: 2013-03

Variant appearance in text: PCSK9: 520C>T; Pro174Ser
PMID: 23997648
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.520C>T p.Pro174Ser missense_variant 3/12 -
ENST00000452118.2 c.520C>T p.Pro174Ser missense_variant 3/6 -
ENST00000543384.1 c.-77-5635C>T - intron_variant - 1/9
NM_174936.4 c.520C>T p.Pro174Ser missense_variant 3/12 -
NR_110451.1 n.183-5635C>T - intron_variant,non_coding_transcript_variant - 1/9