Individual #00003243

ID_report -
Reference PubMed: Foresta 2000
Remarks -
Gender M
Consanguinity -
Country Italy
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases INFM
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-11-03 11:44:46 +01:00 (CET)
Date last edited N/A


Phenotypes

infertility, male (INFM) (INFM)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000002083 infertility, idopathic; azoospermia; testicular cytoloy Sertoli cell-only syndrome - - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000003160 DNA PCR - - - 1 Johan den Dunnen



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 (inferred) +/? - pathogenic g.(14440128_14607475)_(15154862_15370586)del - AZFa deletion - chrY_000087 AZFa deletion (sY83+, sY86_494CENdel, 494-146K+); undeleted father or brother PubMed: Foresta 2000 - - De novo - 1/41 cases - - - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - -
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