Individual #00206929

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Italy
Population -
Age/Death 48y (48 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SWNTS
Owner name Marica Eoli


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     
0000154804 - - - Familial, autosomal dominant - - - - Marica Eoli



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207964 DNA SEQ-NG-IT Blood tissue - LZTR1, NF1, NF2, SMARCB1, SPRED1 1 Marica Eoli



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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 Unknown g.21336821G>A - - - LZTR1_000104 - - - - Germline/De novo (untested) - - - 0 - Marica Eoli LZTR1 +/. - - - - - 1 NM_006767.3:c.161G>A - - r.(161g>a) p.(Trp54*) - - - - - - - - - - - - - - - - - - - - - - -
Legend