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.




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