LDLR c.1844A>G ;(p.E615G)

Variant ID: 19-11227673-A-G

NM_000527.4(LDLR):c.1844A>G;(p.E615G)

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:

Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia.

Frontiers In Genetics
Soufi, Muhidien M; Bedenbender, Simon S; Ruppert, Volker V; Kurt, Bilgen B; Schieffer, Bernhard B; Schaefer, Juergen R JR
Publication Date: 2022

Variant appearance in text: LDLR: 1844A>G; Glu615Gly
PubMed Link: 35222550
Variant Present in the following documents:
  • Main text
  • fgene-13-836231.pdf
View BVdb publication page