Individual #00081743

ID_report -
Reference PubMed: Kloeckener-Gruissem 2006, Wagner 1938, Augenheilkd. 100:840-858
Remarks 5-generation family, 36 affecteds (17F, 19M)
Gender F;M
Consanguinity -
Country Switzerland
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 36
Diseases WGVRP
Owner name Johan den Dunnen


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     
0000061384 see paper; ... - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081873 DNA;RNA RT-PCR;SEQ - - VCAN 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

dbSNP ID     

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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     
5 Both (homozygous) -?/. g.82767201A>G g.83471382A>G - - VCAN_000005 - PubMed: Kloeckener-Gruissem 2006 - - Germline - - - 0 - Johan den Dunnen VCAN - - - - - _1 NM_004385.4:c.-648A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 +/. g.82838088G>A g.83542269G>A - - VCAN_000004 not in 104 normal chromosomes; mapped by linkgae analysis; 700-fold and 150-fold increase in VCAN isoforms V2 and V3 PubMed: Kloeckener-Gruissem 2006, OMIM:var0002, PubMed: Kloeckener-Gruissem 2006 - - Germline yes - - 0 - Johan den Dunnen VCAN - - - - - 8i NM_004385.4:c.9265+1G>A - - r.9245_9265del p.Thr3083_Gly3089del - - - - - - - - - - - - - - - - - - -
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