Variant ID: 1-55509622-G-A

NM_174936.3(PCSK9):c.314G>A;(p.Arg105Gln)

This variant was identified in 2 publications




Publications:


PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: R105Q
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R105Q
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
  • mmc1.docx
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