Individual #00174359

ID_report Fam1
Reference PubMed: Melean G 2012
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases meningioma, SWNTS
Owner name Julia Lopez


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     
0000139192 (fibroblastic) spinal - - Familial - - - - - Julia Lopez

Schwannomatosis (SWNTS) (SWNTS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000139185 - - schwannoma: 2 spinal, 1 mandibular, multiple subcutaneous Familial - 25y - - Julia Lopez



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175249 DNA SEQ - - SMARCB1 1 Julia Lopez



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     
22 Parent #1 ?/. g.24134056_24134057dupTA - - - SMARCB1_000094 - PubMed: Melean G 2012 - - Unknown - - - 0 - Julia Lopez SMARCB1 - - - - - 2 NM_003073.3:c.207_208dup - - r.(?) p.(Lys70Ilefs*16) - - - - - - - - - - - - - - - - - - -
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