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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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