Bibliome.ai browser hg19
Search
About
Stats
FAQ
PSEN1 c.661_662delinsAC ;(p.L221T)
Variant ID: 14-73659464-CT-AC
NM_000021.3(
PSEN1
):c.661_662delinsAC;(p.L221T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
The American Journal Of Pathology
Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D
Publication Date: 2021-11
Variant appearance in text: PSEN1: Leu221Thr
PubMed Link:
34331941
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Case Report of a 63-Year-Old Patient With Alzheimer Disease and a Novel Presenilin 2 Mutation.
Alzheimer Disease And Associated Disorders
Wells, Jennie L JL; Pasternak, Stephen H SH
Publication Date: 2019
Variant appearance in text: PSEN1: L221T
PubMed Link:
30119059
Variant Present in the following documents:
Main text
wad-33-166.pdf
View BVdb publication page