Variant ID: 1-55518458-CTC-ATG


This variant was identified in 1 publication


In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.

Journal Of Lipid Research
M Winther, S Shpitzen, O Yaacov, J Landau, L Oren, L Foroozan-Rosenberg, N Lev Cohain, D Schurr, V Meiner, A Szalat, S Carmi, MR Hayden, E Leitersdorf, R Durst
Publication Date: 2019-10

Variant appearance in text: PCSK9: L265M
PubMed Link: 31387896
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.793_795delinsATG p.Leu265Met missense_variant 5/12 -
ENST00000490692.1 n.1614_1616delinsATG - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.193_195delinsATG p.Leu65Met missense_variant 3/10 -
NM_174936.4 c.793_795delinsATG p.Leu265Met missense_variant 5/12 -
NR_110451.1 n.452_454delinsATG - non_coding_transcript_exon_variant 3/10 -