LDLR c.266G>C ;(p.C89S)

Variant ID: 19-11213415-G-C

NM_000527.4(LDLR):c.266G>C;(p.C89S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Journal Of Personalized Medicine
Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M
Publication Date: 2021-11-19

Variant appearance in text: LDLR: 266G>C; Cys89Ser
PubMed Link: 34834584
Variant Present in the following documents:
  • Main text
  • jpm-11-01232.pdf
View BVdb publication page