Individual #00149136

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Australia
Population Caucasian
Age/Death 46y09m (46 years, 9 months)
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases AD, Picks
Owner name Marc Cruts


Phenotypes

Alzheimer disease, type 3 (AD-3) (AD-3)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000121554 - Familial, autosomal dominant 40y04m - - - - - - Marc Cruts



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149992 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     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
14 Unknown g.73640371A>C - - - PSEN1_000258 Point mutation in coding region predicting an amino acid substitution - - rs63750306 Unknown yes - - 0 - Marc Cruts PSEN1 +/+ - - - - - 5 NM_000021.3:c.436A>C - - r.(?) p.(Met146Leu) - - - - - - - - - - - - - - - - - - - - - - -
Legend