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


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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