LDLR c.2142G>A ;(p.E714=)

Variant ID: 19-11233851-G-A

NM_000527.4(LDLR):c.2142G>A;(p.E714=)

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:

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: LDLR: E714E
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page