Individual #00387596

ID_report -
Reference PubMed: Hirano 2015
Remarks novel
Gender M
Consanguinity no
Country Japan
Population Japanese
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-10-29 21:32:58 +02:00 (CEST)
Date last edited N/A


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000281159 - Bardet-Biedl syndrome - Familial, autosomal recessive - - 16y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388822 DNA;RNA SEQ;PCR blood - BBS5 2 LOVD



Variants

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

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic g.170344503C>T - p.R89X (c.C265T) - BBS5_000010 - PubMed: Hirano 2015 - - Germline - - - - - LOVD BBS5 - - - - 5 NM_152384.2:c.265C>T - r.(?) p.(Arg89*) - - - - - - - - - - - - - -
2 Unknown +/. - pathogenic g.170354110T>G - IVS7-27T>G - BBS5_000064 - PubMed: Hirano 2015 - - Germline - - - - - LOVD BBS5 - - - - 7i NM_152384.2:c.619-27T>G - r.(=) p.(=) - - - - - - - - - - - - - -
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