Variant ID: 1-55521857-C-G


This variant was identified in 1 publication


Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports
MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, A Etxebarria, O Guardamagna, M Gentile, C Martín, G Fortunato
Publication Date: 2017-11-10

Variant appearance in text: PCSK9: 991C>G; Pro331Ala
PMID: 29127338
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.991C>G p.Pro331Ala missense_variant 6/12 -
ENST00000490692.1 n.1812C>G - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.391C>G p.Pro131Ala missense_variant 4/10 -
NM_174936.4 c.991C>G p.Pro331Ala missense_variant 6/12 -
NR_110451.1 n.650C>G - non_coding_transcript_exon_variant 4/10 -