COG2 c.1302del ;(p.M434Ifs*46)

Variant ID: 1-230820904-TG-T

NM_007357.2(COG2):c.1302del;(p.M434Ifs*46)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
Zakharova, Faina M FM; Damgaard, Dorte D; Mandelshtam, Michail Y MY; Golubkov, Valery I VI; Nissen, Peter H PH; Nilsen, Gitte G GG; Stenderup, Anette A; Lipovetsky, Boris M BM; Konstantinov, Vladimir O VO; Denisenko, Alexander D AD; Vasilyev, Vadim B VB; Faergeman, Ole O
Publication Date: 2005-02-08

Variant appearance in text: LDLC: 1302delG
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page