LRP1 c.12048C>A ;(p.Y4016*)

Variant ID: 12-57602503-C-A

NM_002332.2(LRP1):c.12048C>A;(p.Y4016*)

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:

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28

Variant appearance in text: LRP1: 12048C>A; Y4016*
PubMed Link: 32345996
Variant Present in the following documents:
  • Main text
  • 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1
  • 41598_2020_Article_63183.pdf
View BVdb publication page