APOB c.1686del ;(p.M564Cfs*2)

Variant ID: 2-21251342-GA-G

NM_000384.2(APOB):c.1686del;(p.M564Cfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.

Cholesterol
Korneva, V A VA; Kuznetsova, T Yu TY; Bogoslovskaya, T Yu TY; Polyakov, D S DS; Vasilyev, V B VB; Orlov, A V AV; Mandelshtam, M Yu MY
Publication Date: 2017

Variant appearance in text: APOB: 1686del
PubMed Link: 28458923
Variant Present in the following documents:
  • Main text
  • CHOLESTEROL2017-9375818.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: 1686del
PubMed Link: 24373485
Variant Present in the following documents:
  • 1471-2350-14-128.pdf
View BVdb publication page