Variant ID: 1-55512247-G-C

NM_174936.3(PCSK9):c.451G>C;(p.Ala151Pro)

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: PCSK9: 451G>C
PMID: 15701167
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.451G>C p.Ala151Pro missense_variant 3/12 -
ENST00000452118.2 c.451G>C p.Ala151Pro missense_variant 3/6 -
ENST00000543384.1 c.-77-5704G>C - intron_variant - 1/9
NM_174936.4 c.451G>C p.Ala151Pro missense_variant 3/12 -
NR_110451.1 n.183-5704G>C - intron_variant,non_coding_transcript_variant - 1/9