Variant ID: 1-55505651-C-T

NM_174936.3(PCSK9):c.141C>T;(p.Ser47Ser)

This variant was identified in 3 publications




Publications:


Association of a 3' untranslated region polymorphism in proprotein convertase subtilisin/kexin type 9 with HIV viral load and CD4+ levels in HIV/hepatitis C virus coinfected women.

Aids (London, England)
MH Kuniholm, H Liang, K Anastos, D Gustafson, S Kassaye, M Nowicki, BE Sha, EJ Pawlowski, SJ Gange, BE Aouizerat, T Pushkarsky, MI Bukrinsky, VR Prasad
Publication Date: 2017-11-28

Variant appearance in text: rs28385701
PubMed Link: 29120899
Variant Present in the following documents:
  • NIHMS905481-supplement-Supplemental_Data_File___doc___tif__pdf__etc___1.xlsx
View BVdb publication page



Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: rs28385701
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: PCSK9: 141C>T; S47S
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.141C>T p.Ser47= synonymous_variant 1/12 -
ENST00000452118.2 c.141C>T p.Ser47= synonymous_variant 1/6 -
NM_174936.4 c.141C>T p.Ser47= synonymous_variant 1/12 -