Variant ID: 1-55505598-GCG-TTT

NM_174936.3(PCSK9):c.88_90delinsTTT;(p.Ala30Phe)

This variant was identified in 1 publication




Publications:


Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Plos Genetics
Y Tanigawa, M Wainberg, J Karjalainen, T Kiiskinen, G Venkataraman, S Lemmelä, JA Turunen, RR Graham, AS Havulinna, M Perola, A Palotie, , MJ Daly, MA Rivas
Publication Date: 2020-05

Variant appearance in text: PCSK9: A30F
PMID: 32369491
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.88_90delinsTTT p.Ala30Phe missense_variant 1/12 -
ENST00000452118.2 c.88_90delinsTTT p.Ala30Phe missense_variant 1/6 -
NM_174936.4 c.88_90delinsTTT p.Ala30Phe missense_variant 1/12 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -