Individual #00315244

ID_report -
Reference PubMed: Ohtsubo et al. 2012
Remarks Patient 1 in published manuscript
Gender F
Consanguinity -
Country Japan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases kidney disease
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower


Phenotypes

kidney disease (kidney disease)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000238996 renal coloboma syndrome - renal coloboma syndrome; Bilateral optic disc coloboma; Proteinuria age 6, Unilateral renal hypoplasia Familial, autosomal dominant - 13y 6y - Matthew Bower



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316420 DNA SEQ - - PAX2 1 Matthew Bower



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     
10 Paternal (inferred) +/+ - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Ohtsubo 2012 - - Germline - - - - - Matthew Bower PAX2 - - - - 2 NM_003990.3:c.76dup - r.(?) p.(Val26GlyFS*28) - - - - - - - - - - - - - -
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