Individual #00180521

ID_report -
Reference PubMed: Macchioni 2002
Remarks Italian cohort
Gender F;M
Consanguinity -
Country Italy
Population Italian
Age/Death -
VIP 0
Data_av for details see the Uveogene database
Treatment -
Panel size 53
Diseases Behcet
Owner name Peizeng Yang


Phenotypes

syndrome, Behcet (Behcet)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000142916 Behcet disease - - Unknown - - - - - Peizeng Yang



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181458 DNA arraySNP Blood - NOS3 1 Peizeng Yang



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     
7 Unknown ?/. g.150696111T>A g.150999023T>A - - NOS3_000006 for details see the Uveogene database PubMed: Macchioni 2002 - rs1799983 Germline - 53/146 cases - 0 - Peizeng Yang NOS3 - - - - - - NM_000603.4:c.894T>A - - r.(?) p.(Asp298Glu) - - - - - - - - - - - - - - - - - - -
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