LDLR c.748C>T ;(p.H250Y)

Variant ID: 19-11217294-C-T

NM_000527.4(LDLR):c.748C>T;(p.H250Y)

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:

Increased absorption of phytosterols is the simplest and most plausible explanation for coronary artery disease risk not accounted for by non-HDL cholesterol in high cholesterol absorbers.

European Heart Journal
Helgadottir, Anna A; Thorleifsson, Gudmar G; Stefansson, Kari K
Publication Date: 2021-01-20

Variant appearance in text: LDLR: His250Tyr
PubMed Link: 33167008
Variant Present in the following documents:
  • Main text
  • ehaa902.pdf
View BVdb publication page