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LDLR c.1470G>T ;(p.W490C)
Variant ID: 19-11224322-G-T
NM_000527.4(
LDLR
):c.1470G>T;(p.W490C)
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:
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020
Variant appearance in text: LDLR: Trp490Cys
PubMed Link:
33519890
Variant Present in the following documents:
Main text
fgene-11-572045.pdf
View BVdb publication page