Variant ID: 1-55521821-CG-GA

NM_174936.3(PCSK9):c.955_956delinsGA;(p.Arg319Glu)

This variant was identified in 2 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

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: R319E
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: R319E
PMID: 26608663
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.955_956delinsGA p.Arg319Glu missense_variant 6/12 -
ENST00000490692.1 n.1776_1777delinsGA - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.355_356delinsGA p.Arg119Glu missense_variant 4/10 -
NM_174936.4 c.955_956delinsGA p.Arg319Glu missense_variant 6/12 -
NR_110451.1 n.614_615delinsGA - non_coding_transcript_exon_variant 4/10 -