Individual #00174332

ID_report -
Reference PubMed: Rousseau G 2011
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SWNTS
Owner name Julia Lopez


Phenotypes

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     
0000139163 - - 11 non-vestibular Isolated (sporadic) - 35y - - Julia Lopez



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175222 DNA SEQ - - SMARCB1 1 Julia Lopez



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     
22 Parent #1 g.24129386del - - - SMARCB1_000037 - PubMed: Rousseau G 2011 - - Unknown - - - 0 - Julia Lopez SMARCB1 ?/. - - - - - 1 NM_003073.3:c.30del - - r.(?) p.(Phe10Leufs*6) - - - - - - - - - - - - - - - - - - - - - - -
Legend