Variant ID: 1-55509598-CGCC-C

NM_174936.3(PCSK9):c.290_292del;(p.Arg97del)

This variant was identified in 2 publications




Publications:


Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: R97del
PMID: 21862702
View BVdb publication page



Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American Journal Of Human Genetics
Z Zhao, Y Tuakli-Wosornu, TA Lagace, L Kinch, NV Grishin, JD Horton, JC Cohen, HH Hobbs
Publication Date: 2006-09

Variant appearance in text: PCSK9: 290_292delGCC
PMID: 16909389
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.291_293del p.Leu98del inframe_deletion 2/12 -
ENST00000452118.2 c.291_293del p.Leu98del inframe_deletion 2/6 -
ENST00000543384.1 c.-78+3525_-78+3527del - intron_variant - 1/9
NM_174936.4 c.291_293del p.Leu98del inframe_deletion 2/12 -
NR_110451.1 n.182+3525_182+3527del - intron_variant,non_coding_transcript_variant - 1/9