Variant ID: 1-55509582-G-A

NM_174936.3(PCSK9):c.274G>A;(p.Glu92Lys)

This variant was identified in 1 publication




Publications:


Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics
PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman
Publication Date: 2014-06-23

Variant appearance in text: PCSK9: 274G>A; Glu92Lys
PMID: 24956927
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.274G>A p.Glu92Lys missense_variant 2/12 -
ENST00000452118.2 c.274G>A p.Glu92Lys missense_variant 2/6 -
ENST00000543384.1 c.-78+3506G>A - intron_variant - 1/9
NM_174936.4 c.274G>A p.Glu92Lys missense_variant 2/12 -
NR_110451.1 n.182+3506G>A - intron_variant,non_coding_transcript_variant - 1/9