Variant ID: 1-55521824-G-A


This variant was identified in 2 publications


Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers In Physiology
P Chen, X Chen, S Zhang
Publication Date: 2019

Variant appearance in text: PCSK9: D320N
PMID: 30949068
View BVdb publication page

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
L Jiang, LY Sun, YF Dai, SW Yang, F Zhang, LY Wang
Publication Date: 2015-11-26

Variant appearance in text: PCSK9: D320N
PMID: 26608663
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.958G>A p.Asp320Asn missense_variant 6/12 -
ENST00000490692.1 n.1779G>A - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.358G>A p.Asp120Asn missense_variant 4/10 -
NM_174936.4 c.958G>A p.Asp320Asn missense_variant 6/12 -
NR_110451.1 n.617G>A - non_coding_transcript_exon_variant 4/10 -