PSEN1 c.28_30delinsAAG ;(p.Y10K)

Variant ID: 14-73614755-TAC-AAG

NM_000021.3(PSEN1):c.28_30delinsAAG;(p.Y10K)

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:

Cerebral amyloidosis: amyloid subunits, mutants and phenotypes.

Cellular And Molecular Life Sciences : Cmls
Rostagno, A A; Holton, J L JL; Lashley, T T; Revesz, T T; Ghiso, Jorge J
Publication Date: 2010-02

Variant appearance in text: PSEN1: Y10K
PubMed Link: 19898742
Variant Present in the following documents:
  • Main text
View BVdb publication page