PSEN1 c.851_852delinsAT ;(p.P284H)

Variant ID: 14-73664820-CA-AT

NM_000021.3(PSEN1):c.851_852delinsAT;(p.P284H)

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:

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Journal Of Alzheimer'S Disease : Jad
Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I
Publication Date: 2010

Variant appearance in text: PS1: P284H
PubMed Link: 20634584
Variant Present in the following documents:
  • Main text
View BVdb publication page