Individual #00180273

ID_report -
Reference -
Remarks 5-generation family, only male affected
Gender M
Consanguinity no
Country Italy
Population white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases RAMSVPS
Owner name Mariateresa Di Stazio
Database submission license No license selected
Created by Mariateresa Di Stazio
Date created 2018-08-29 11:19:38 +02:00 (CEST)
Date last edited 2018-09-07 11:20:11 +02:00 (CEST)


Phenotypes

hearing loss (HL) (HL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000142689 Hereditary Hearing Loss, prostate hyperplasia and increased ratio of the free/total PSA levels. Hereditary Hearing Loss, prostate hyperplasia and increased ratio of the free/total PSA levels. - Paternal, Y-linked - - 20y-50y - - Mariateresa Di Stazio



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181233 DNA SEQ;SEQ-NG-S blood WES (whole exome sequencing) TBL1Y 1 Mariateresa Di Stazio



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
Y Paternal (confirmed) +?/. - likely pathogenic g.6931939A>T g.7063898A>T c.(267A>T) - TBL1Y_000006 - - - rs199659121 Germline yes - - - - Mariateresa Di Stazio TBL1Y - - - - 8 NM_033284.1:c.206A>T - r.(?) p.(Asp69Val) - - - - - - - - - - - - - -
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