Individual #00132979

ID_report 29100090-FamDC1
Reference PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017
Remarks 2-genertion family, heterozygous carrier father
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases CAKUT
Owner name Johan den Dunnen


Phenotypes

kidney and urinary tract, anomalies, congenital (CAKUT) (CAKUT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000105740 CAKUT, renal hypoplasia bilateral; branchio-oto-renal syndrome features - - Familial - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133813 DNA SEQ - WES EYA1 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

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Origin     

Segregation     

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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     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
8 Paternal (confirmed) +/. g.72127888A>T - - - EYA1_000002 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - 0 - Johan den Dunnen EYA1 - - - - - - NM_172058.2:c.1436T>A - - r.(?) p.(Leu479*) - - - - - - - - - - - - - - - - - - -
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