LDLR c.928A>T ;(p.I310F)

Variant ID: 19-11218178-A-T

NM_000527.4(LDLR):c.928A>T;(p.I310F)

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: 928A>T; Ile310Phe
PubMed Link: 30971288
Variant Present in the following documents:
  • Main text
  • 12944_2019_Article_1042.pdf
View BVdb publication page