PSEN1 c.82_83delinsGC ;(p.S28A)

Variant ID: 14-73614809-AG-GC

NM_000021.3(PSEN1):c.82_83delinsGC;(p.S28A)

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:

Pathogenic PS1 phosphorylation at Ser367.

Elife
Maesako, Masato M; Horlacher, Jana J; Zoltowska, Katarzyna M KM; Kastanenka, Ksenia V KV; Kara, Eleanna E; Svirsky, Sarah S; Keller, Laura J LJ; Li, Xuejing X; Hyman, Bradley T BT; Bacskai, Brian J BJ; Berezovska, Oksana O
Publication Date: 2017-01-30

Variant appearance in text: PS1: S28A
PubMed Link: 28132667
Variant Present in the following documents:
  • Main text
  • elife-19720.pdf
View BVdb publication page