Individual #00148973

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population Caucasian
Age/Death 57y (57 years)
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases FTD
Owner name Marc Cruts


Phenotypes

hypertension, essential (EHT) (EHT)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000121391 - Familial 53y - - - - - - Marc Cruts



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149829 DNA ? - - MAPT 1 Marc Cruts



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

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     

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 level     
17 Unknown +/+ g.44087784C>T - - - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10 - - rs63751011 Unknown no - - 0 - Marc Cruts MAPT - - - - - 12i NM_001123066.3:c.1920+16C>T - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
Legend