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LDLR c.768C>G ;(p.D256E)
Variant ID: 19-11217314-C-G
NM_000527.4(
LDLR
):c.768C>G;(p.D256E)
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 UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Journal Of Medical Genetics
Leigh, Sarah S; Futema, Marta M; Whittall, Ros R; Taylor-Beadling, Alison A; Williams, Maggie M; den Dunnen, Johan T JT; Humphries, Steve E SE
Publication Date: 2017-04
Variant appearance in text: LDLR: 768C>G; Asp256Glu
PubMed Link:
27821657
Variant Present in the following documents:
Main text
jmedgenet-2016-104054.pdf
View BVdb publication page