Individual #00000539

Reference Vo Van Giau et al.(2019)
Gender F
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks age of onset: 40
Microattribution -
Panel size 1
Diseases EOAD
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-23 15:25:33 +08:00 (CST)
Date last edited 2021-08-01 13:33:07 +08:00 (CST)


Phenotypes

Early Onset Alzheimer disease (EOAD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000183 disease age of onset: 40, presented a symptomatic change in behavior and personality, such as apathy and withdrawal - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000587 DNA SEQ PSEN1 1 Nur Aisyah Athirah



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
14 Unknown +/. g.73170995G>T - Vo Van Giau et al.(2019) PSEN1_000001 rs63750601 - - Nur Aisyah Athirah PSEN1 - NM_000021.3:c.286G>T - r.(?) p.(Val96Phe) - Known pathogenic mutation (EOAD)
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