Variant ID: 3-197703473-T-C

NM_033029.3(LMLN):c.436T>C;(p.Cys146Arg)

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: Msp: C146R
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.436T>C p.Cys146Arg missense_variant 5/16 -
ENST00000332636.5 c.280T>C p.Cys94Arg missense_variant 5/16 -
ENST00000419117.1 c.220T>C p.Cys74Arg missense_variant 5/6 -
ENST00000420910.2 c.436T>C p.Cys146Arg missense_variant 5/17 -
ENST00000451139.2 n.927T>C - non_coding_transcript_exon_variant 4/16 -
ENST00000482695.1 c.280T>C p.Cys94Arg missense_variant 5/17 -
ENST00000482837.1 n.16T>C - non_coding_transcript_exon_variant 1/2 -
NM_001136049.2 c.436T>C p.Cys146Arg missense_variant 5/17 -
NM_033029.3 c.436T>C p.Cys146Arg missense_variant 5/16 -
NR_026786.2 n.320T>C - non_coding_transcript_exon_variant 5/17 -
NR_026787.2 n.320T>C - non_coding_transcript_exon_variant 5/16 -