Variant ID: 1-230819355-T-A

NM_007357.2(COG2):c.1202T>A;(p.Leu401His)

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: 1202T>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
ENST00000366668.3 c.1202T>A p.Leu401His missense_variant 11/18 -
ENST00000366669.4 c.1202T>A p.Leu401His missense_variant 11/18 -
ENST00000468893.2 c.*1060T>A - 3_prime_UTR_variant,NMD_transcript_variant 12/19 -
ENST00000534989.1 c.1025T>A p.Leu342His missense_variant 11/18 -
ENST00000535166.1 c.854T>A p.Leu285His missense_variant 12/19 -
ENST00000546013.1 c.269T>A p.Leu90His missense_variant 3/10 -
NM_001145036.2 c.1202T>A p.Leu401His missense_variant 11/18 -
NM_007357.3 c.1202T>A p.Leu401His missense_variant 11/18 -