Variant ID: 1-55529226-A-AA

NM_174936.3(PCSK9):c.2048dup;(p.His683Glnfs*28)

This variant was identified in 1 publication



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

Publications:

Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
CJ Lee, Y Lee, S Park, SM Kang, Y Jang, JH Lee, SH Lee
Publication Date: 2017

Variant appearance in text: PCSK9: 2048dupA; H683fs
PMID: 29036232
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2048dup p.His683Glnfs*28 frameshift_variant 12/12 -
ENST00000490692.1 n.2594dup - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2048dup p.His683Glnfs*28 frameshift_variant 12/12 -
NR_110451.1 n.1655dup - non_coding_transcript_exon_variant 10/10 -