APOB c.1959C>T ;(p.A653=)

Variant ID: 2-21250808-G-A

NM_000384.2(APOB):c.1959C>T;(p.A653=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: APOB: A653A
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2016-03

Variant appearance in text: APOB: 1959C>T
PubMed Link: 26892515
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Association of polymorphisms of genes involved in lipid metabolism with blood pressure and lipid values in mexican hypertensive individuals.

Disease Markers
Ríos-González, Blanca Estela BE; Ibarra-Cortés, Bertha B; Ramírez-López, Guadalupe G; Sánchez-Corona, José J; Magaña-Torres, María Teresa MT
Publication Date: 2014

Variant appearance in text: APOB: 1959C>T
PubMed Link: 25587205
Variant Present in the following documents:
  • Main text
  • DM2014-150358.pdf
View BVdb publication page



Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics
Komarova, Tatiana Yu TY; Korneva, Victoria A VA; Kuznetsova, Tatiana Yu TY; Golovina, Alexandra S AS; Vasilyev, Vadim B VB; Mandelshtam, Michail Yu MY
Publication Date: 2013-12-27

Variant appearance in text: APOB: 1959C>T
PubMed Link: 24373485
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-128.pdf
View BVdb publication page