Individual #00079999

ID_report -
Reference -
Remarks -
Gender -
Consanguinity no
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases WGVRP
Owner name Burin des Roziers Cyril


Phenotypes

vitreoretinopathy, Wagner (WGVRP, Wagner syndrome) (WGVRP)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000061381 - - - Unknown - - - - - Burin des Roziers Cyril



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080077 DNA SEQ-NG-IT Blood - VCAN 1 Burin des Roziers Cyril



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     

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     
5 Maternal (confirmed) +/. g.82830241_82840747del g.83534422_83544928del g.67712_78218del - VCAN_000002 - - - - Germline yes - - 0 - Burin des Roziers Cyril VCAN - - - - - 7i_8i NM_004385.4:c.4004-2585_9266-609del - - r.(4004_9265del)) p.(Arg1336_Gly3089del) - - - - - - - - - - - - - - - - - - -
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