APOE c.340dup ;(p.E114Gfs*51)

Variant ID: 19-45411891-A-AG

NM_000041.2(APOE):c.340dup;(p.E114Gfs*51)

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:

Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.

Molecular Genetics And Metabolism Reports
Leren, Trond P TP; Strøm, Thea Bismo TB; Berge, Knut Erik KE
Publication Date: 2016-12

Variant appearance in text: APOE: 339dupG
PubMed Link: 27830118
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page