Variant ID: 1-55509622-G-A


This variant was identified in 1 publication


The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: PCSK9: 314G>A; R105Q
PMID: 23535506
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.314G>A p.Arg105Gln missense_variant 2/12 -
ENST00000452118.2 c.314G>A p.Arg105Gln missense_variant 2/6 -
ENST00000543384.1 c.-78+3546G>A - intron_variant - 1/9
NM_174936.4 c.314G>A p.Arg105Gln missense_variant 2/12 -
NR_110451.1 n.182+3546G>A - intron_variant,non_coding_transcript_variant - 1/9