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PSEN1 c.1128_1129insG ;(p.R377Efs*19)
Variant ID: 14-73678649-A-AG
NM_000021.3(
PSEN1
):c.1128_1129insG;(p.R377Efs*19)
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:
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.
International Journal Of Molecular Sciences
Palmieri, Ilaria I; Valente, Marialuisa M; Farina, Lisa Maria LM; Gana, Simone S; Minafra, Brigida B; Zangaglia, Roberta R; Pansarasa, Orietta O; Sproviero, Daisy D; Costa, Alfredo A; Pacchetti, Claudio C; Pichiecchio, Anna A; Gagliardi, Stella S; Cereda, Cristina C
Publication Date: 2021-04-08
Variant appearance in text: PSEN1: Arg377fs
PubMed Link:
33918046
Variant Present in the following documents:
Main text
View BVdb publication page