Variant ID: 1-230805194-C-T


This variant was identified in 1 publication


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: H229H
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.687C>T p.His229= synonymous_variant 7/18 -
ENST00000366669.4 c.687C>T p.His229= synonymous_variant 7/18 -
ENST00000468893.2 c.*545C>T - 3_prime_UTR_variant,NMD_transcript_variant 8/19 -
ENST00000494371.1 n.1001C>T - non_coding_transcript_exon_variant 8/10 -
ENST00000534989.1 c.510C>T p.His170= synonymous_variant 7/18 -
ENST00000535166.1 c.339C>T p.His113= synonymous_variant 8/19 -
NM_001145036.2 c.687C>T p.His229= synonymous_variant 7/18 -
NM_007357.3 c.687C>T p.His229= synonymous_variant 7/18 -