Variant ID: 8-133900531-G-A

NM_003235.4(TG):c.2479G>A;(p.Ala827Thr)

This variant was identified in 1 publication




Publications:


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

Bmc Medical Genetics
FM Zakharova, D Damgaard, MY Mandelshtam, VI Golubkov, PH Nissen, GG Nilsen, A Stenderup, BM Lipovetsky, VO Konstantinov, AD Denisenko, VB Vasilyev, O Faergeman
Publication Date: 2005-02-08

Variant appearance in text: TG: 2479G>A
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000220616.4 c.2479G>A p.Ala827Thr missense_variant 10/48 -
ENST00000377869.1 c.2479G>A p.Ala827Thr missense_variant 10/47 -
NM_003235.5 c.2479G>A p.Ala827Thr missense_variant 10/48 -