Variant ID: 2-21229860-A-G

NM_000384.2(APOB):c.9880T>C;(p.Ser3294Pro)

This variant was identified in 5 publications




Publications:


Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Plos One
M Hayat, R Kerr, AR Bentley, CN Rotimi, FJ Raal, M Ramsay
Publication Date: 2020

Variant appearance in text: rs12720855
PubMed Link: 32084179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of APOB.

Jama Neurology
TS Wingo, DJ Cutler, AP Wingo, NA Le, GD Rabinovici, BL Miller, JJ Lah, AI Levey
Publication Date: 2019-07-01

Variant appearance in text: rs12720855
PubMed Link: 31135820
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Y Zhou, R Mägi, L Milani, VM Lauschke
Publication Date: 2018-10

Variant appearance in text: APOB: S3294P; rs12720855
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.

Plos One
PB Celestino-Soper, A Doytchinova, HA Steiner, A Uradu, TC Lynnes, WJ Groh, JM Miller, H Lin, H Gao, Z Wang, Y Liu, PS Chen, M Vatta
Publication Date: 2015

Variant appearance in text: rs12720855
PubMed Link: 26636822
Variant Present in the following documents:
  • pone.0143588.s005.docx
View BVdb publication page



Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.

Genetic Epidemiology
JN Hellwege, ND Palmer, LM Raffield, MC Ng, GA Hawkins, J Long, C Lorenzo, JM Norris, YD Ida Chen, EK Speliotes, JI Rotter, CD Langefeld, LE Wagenknecht, DW Bowden
Publication Date: 2014-05

Variant appearance in text: APOB: S3294P; rs12720855
PubMed Link: 24719370
Variant Present in the following documents:
  • NIHMS649741-supplement-supplemental_tables.docx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.9880T>C p.Ser3294Pro missense_variant 26/29 -
NM_000384.3 c.9880T>C p.Ser3294Pro missense_variant 26/29 -