Individual #00148924

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Japan
Population Asian
Age/Death 44y (44 years)
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases Picks
Owner name Marc Cruts


Phenotypes

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

AscendingPhenotype ID     

Age/Onset     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Phenotype/Onset     

Phenotype details     

Protein     

Biochem     

Enzyme/Activity     

Owner     
0000121342 - - Familial 42y06m - - - - - - - Marc Cruts



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149780 DNA ? - - MAPT 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     
17 Unknown g.44087767G>A - - - MAPT_000057 Point mutation in coding region predicting an amino acid substitution - - rs63751165 Unknown yes - - 0 - Marc Cruts MAPT +/+ - - - - - 12 NM_001123066.3:c.1919G>A - - r.(?) p.(Ser640Asn) - - - - - - - - - - - - - - - - - - - - - - -
Legend