Variant ID: 1-230820904-TG-T

NM_007357.2(COG2):c.1302del;(p.Met434Ilefs*46)

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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.1304del p.Phe435Serfs*45 frameshift_variant 12/18 -
ENST00000366669.4 c.1304del p.Phe435Serfs*45 frameshift_variant 12/18 -
ENST00000468893.2 c.*1162del - 3_prime_UTR_variant,NMD_transcript_variant 13/19 -
ENST00000482012.1 n.194del - non_coding_transcript_exon_variant 2/5 -
ENST00000534989.1 c.1127del p.Phe376Serfs*45 frameshift_variant 12/18 -
ENST00000535166.1 c.956del p.Phe319Serfs*45 frameshift_variant 13/19 -
ENST00000546013.1 c.371del p.Phe124Serfs*45 frameshift_variant 4/10 -
NM_001145036.2 c.1304del p.Phe435Serfs*45 frameshift_variant 12/18 -
NM_007357.3 c.1304del p.Phe435Serfs*45 frameshift_variant 12/18 -