Variant ID: 1-55512245-TTT-T

NM_174936.3(PCSK9):c.449_450del;(p.Phe150Cysfs*20)

This variant was identified in 1 publication




Publications:


Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: PCSK9: 449_450del
PMID: 26036859
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.450_451del p.Ala151Profs*19 frameshift_variant 3/12 -
ENST00000452118.2 c.450_451del p.Ala151Profs*19 frameshift_variant 3/6 -
ENST00000543384.1 c.-77-5705_-77-5704del - intron_variant - 1/9
NM_174936.4 c.450_451del p.Ala151Profs*19 frameshift_variant 3/12 -
NR_110451.1 n.183-5705_183-5704del - intron_variant,non_coding_transcript_variant - 1/9