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.




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