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FH c.192del ;(p.N64Kfs*10)
Variant ID: 1-241680557-CA-C
NM_000143.3(
FH
):c.192del;(p.N64Kfs*10)
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: FH: 192del
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: FH: 192del
PubMed Link:
24373485
Variant Present in the following documents:
Main text
1471-2350-14-128.pdf
View BVdb publication page