Individual #00148996

ID_report -
Reference -
Remarks Aβ negative, tau positive pathology
Gender -
Consanguinity -
Country Belgium
Population Caucasian
Age/Death 64y09m (64 years, 9 months)
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases Picks
Owner name Marc Cruts


Phenotypes

glutaricaciduria, type 1 (GA-1) (GA-1)   Add phenotype for this disease

AscendingPhenotype ID     

Age/Onset     

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Phenotype details     

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Biochem     

Enzyme/Activity     

Owner     
0000121414 - - Familial 51y - - - - - - - Marc Cruts



Screenings


AscendingScreening ID     

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Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149852 DNA ? - - PSEN1 1 Marc Cruts



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Type/DNA     

Conservation     

CpG     

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mRNA level     

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Protein/Stain     

Protein level     
14 Unknown g.73653628G>T - - - PSEN1_000288 Point mutation in coding region predicting an amino acid substitution - - rs63751068 Unknown yes - - 0 - Marc Cruts PSEN1 +/+ - - - - - 6 NM_000021.3:c.(548G>T) - - r.(?) p.(Gly183Val) - - - - - - - - - - - - - - - - - - - - - - -
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