Bibliome.ai browser hg19
Search
About
Stats
FAQ
LDLR c.1867A>T ;(p.I623F)
Variant ID: 19-11230789-A-T
NM_000527.4(
LDLR
):c.1867A>T;(p.I623F)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.
Lipids In Health And Disease
Lee, Chongyou C; Cui, Yuxia Y; Song, Junxian J; Li, Sufang S; Zhang, Feng F; Wu, Manyan M; Li, Long L; Hu, Dan D; Chen, Hong H
Publication Date: 2019-04-11
Variant appearance in text: LDLR: 1867A>T; Ile623Phe
PubMed Link:
30971288
Variant Present in the following documents:
Main text
12944_2019_Article_1042.pdf
View BVdb publication page
Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.
Clinical Cardiology
Cui, Yuxia Y; Li, Sufang S; Zhang, Feng F; Song, Junxian J; Lee, Chongyou C; Wu, Manyan M; Chen, Hong H
Publication Date: 2019-03
Variant appearance in text: LDLR: 1867A>T; Ile623Phe
PubMed Link:
30637778
Variant Present in the following documents:
Main text
CLC-42-385.pdf
View BVdb publication page