Individual #00241248

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country Croatia (Hrvatska)
Population caucasian
Age/Death 77y (77 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases meningioma
Owner name Anja Bukovac


Phenotypes

meningioma, familial, susceptibility to (meningioma)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000185393 ORPHA:2495 meningioma - - Unknown - - - - - Anja Bukovac



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000242360 DNA SEQ meningioma - TP53 1 Anja Bukovac



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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.7579484_7579485insA g.7676166_7676167insA - - TP53_010139 - - - - Somatic - - - 0 - Anja Bukovac TP53 - - - - - 4 NM_000546.5:c.202_203insT - pathogenic r.(?) p.(Glu68Valfs*81) - - - - - - - - - - - - - - - - - - -
Legend