LDLR c.850T>A ;(p.C284S)

Variant ID: 19-11218100-T-A

NM_000527.4(LDLR):c.850T>A;(p.C284S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Journal Of The Endocrine Society
Ittisoponpisan, Sirawit S; David, Alessia A
Publication Date: 2018-08-01

Variant appearance in text: LDLR: Cys284Ser; rs879254693
PubMed Link: 30019023
Variant Present in the following documents:
  • Main text
  • js.2018-00077.pdf
View BVdb publication page