Individual #00050103

ID_report -
Reference PubMed: Lu 2007, Journal: Lu 2007
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age/Death >18y (later than 18 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VUR-2
Owner name Johan den Dunnen


Phenotypes

reflux, vesicoureteral, type 2 (VUR-2) (VUR-2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000036717 see paper; bilateral high-grade VUR, right megaureter at UVJ; 9y-required ureteral reimplantation surgery; wide-open right/left ureteral orifices due to bilateral absence of intravesical ureteral segments, ... - - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050045 DNA;RNA FISH;PCR;RT-PCR;SEQ - - PCDH11Y, ROBO2 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Chr     

Allele     

Effect     

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     

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     

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 level     
3 Unknown +/. g.[chr3:pter_77220642::chrY:4892527_cen_qter] - ROBO2-PCDH11Y fusion 46,XY,t(Y;3)(p11;p12)dn ROBO2_000006 breakpoint in BAC RP11-54A6; fusion transcripts expressed at somewhat reduced levels compared to non-translocated chromosome PubMed: Lu 2007, Journal: Lu 2007 - - De novo - - - 0 - Johan den Dunnen ROBO2 - - - - - 3i NM_001128929.2:c.436+73151_436+73152::? - pathogenic r.-280_436::NM_032971.2:r.[33_*1237,-271_*1237] p.? - - - - - - - - - - - - - - - - - - -
17 Unknown +?/. g.(16000001_22200000)del - del(17)(p11.2) - RAI1_000000 3.4 Mb deletion incl. RAI1 may contribute to some aspects of the sleep/behavioral/cognitive deficits (similar phenotypes in Smith-Magenis syndrome patients) PubMed: Lu 2007, Journal: Lu 2007 - - Unknown - - - 0 - Johan den Dunnen RAI1 - - - - - _1_6_ NM_030665.3:c.0 - - r.0 p.0 - - - - - - - - - - - - - - - - - - -
Y Unknown +/. g.[chrY:pter_4892525::TTT::chr3:77220643_cen_qter] - - 46,XY,t(Y;3)(p11;p12)dn PCDH11Y_000004 transcript not studied PubMed: Lu 2007, Journal: Lu 2007 - - De novo - - - 0 - Johan den Dunnen PCDH11Y - - - - - 1i, ? NM_032971.2:c.-133-7422_-133-7420tra{-133-7421del}, NM_032973.1:c.-32340_-32338tra{-32339del} - pathogenic r.? p.? - - - - - - - - - - - - - - - - - - -
Legend