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.




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