Individual #00240493

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country Croatia (Hrvatska)
Population Caucasian
Age/Death 40y (40 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     
0000185383 ORPHA:2495 meningioma - - Unknown - - - - - Anja Bukovac



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241602 DNA SEQ meningioma - TP53 5 Anja Bukovac



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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.7579416A>G g.7676098A>G - - TP53_010130 - - - - Somatic - - - - - Anja Bukovac TP53 - - - - - 4 NM_000546.5:c.271T>C - pathogenic r.(?) p.(Trp91Arg) - - - - - - - - - - - - - - - - - - -
17 Unknown +?/. g.7579424G>C g.7676106G>C - - TP53_010131 - - - - Somatic - - - - - Anja Bukovac TP53 - - - - - 4 NM_000546.5:c.263C>G - pathogenic r.(?) p.(Ala88Gly) - - - - - - - - - - - - - - - - - - -
17 Unknown +?/. g.7579442G>A g.7676124G>A - - TP53_010022 - - - - Somatic - - - - - Anja Bukovac TP53 - - - - - 4 NM_000546.5:c.245C>T - pathogenic r.(?) p.(Pro82Leu) - - - - - - - - - - - - - - - - - - -
17 Unknown +?/. g.7579458G>A g.7676140G>A - - TP53_010134 - - - - Somatic - - - - - Anja Bukovac TP53 - - - - - 4 NM_000546.5:c.229C>T - pathogenic r.(?) p.(Pro77Ser) - - - - - - - - - - - - - - - - - - -
17 Unknown +?/. g.7579472G>C g.7676154G>C - - TP53_010135 - - - - Somatic - - - - - Anja Bukovac TP53 - - - - - 4 NM_000546.5:c.215G>C - pathogenic r.(?) p.(Pro72Arg) - - - - - - - - - - - - - - - - - - -
Legend