LDLR c.727T>C ;(p.C243R)

Variant ID: 19-11217273-T-C

NM_000527.4(LDLR):c.727T>C;(p.C243R)

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:

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine
Di Taranto, Maria Donata MD; Giacobbe, Carola C; Buonaiuto, Alessio A; Calcaterra, Ilenia I; Palma, Daniela D; Maione, Giovanna G; Iannuzzo, Gabriella G; Di Minno, Matteo Nicola Dario MND; Rubba, Paolo P; Fortunato, Giuliana G
Publication Date: 2020-01-14

Variant appearance in text: LDLR: 727T>C; Cys243Arg
PubMed Link: 31947532
Variant Present in the following documents:
  • Main text
  • jcm-09-00219.pdf
View BVdb publication page