Individual #00174338

ID_report -
Reference PubMed: Hulsebos TJ 2016
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases RCCP-1, SWNTS
Owner name Julia Lopez


Phenotypes

carcinoma, renal cell, papillary, type 1 (RCCP-1) (RCCP-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000139191 - - - Familial - - 40y - - 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     
0000139169 - - multiple schwannomas Familial - 25y - - Julia Lopez



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175228 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     

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.24165166_24172852dup - c.796-2246_986 + 5250dup7686, p. Glu330* - SMARCB1_000129 mosaic in all schwanommas, loss of expression in the pRCC1 PubMed: Hulsebos TJ 2016 - - Unknown - - - 0 - Julia Lopez SMARCB1 ?/. - - - - - 6i_7i NM_003073.3:c.796-2246_986+5250dup - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
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