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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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