Individual #00100677

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases PPB
Owner name Nancy Hamel
Database submission license No license selected
Created by Nancy Hamel
Date created 2011-08-24 00:06:47 +02:00 (CEST)
Date last edited 2014-07-18 23:11:59 +02:00 (CEST)


Phenotypes

blastoma, pleuropulmonary (PPB) (PPB)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000078897 Multinodular goiter (MNG), Sertoli-Leydig cell tumor (SLCT) - - Familial, autosomal dominant - - - - - Nancy Hamel



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101101 DNA SEQ - - DICER1 1 Nancy Hamel



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     

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Owner     

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IDbase Accession Number     

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Exon     

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Exon_old     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
14 Maternal (confirmed) +/? - pathogenic g.95562238_95562241del g.95095901_95095904del - - DICER1_000016 variant allele is subject to nonsense-mediated decay: no variant transcript was detected in untreated cells. PubMed: Schultz 2015 - - Germline - - - - - Nancy Hamel DICER1 - - - - 23 NM_177438.2:c.5018_5021del - r.0 p.0 - - - - - - - - - - - - - -
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