Individual #00269434

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Korea
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BBS1
Owner name Jinu Han
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jinu Han
Date created 2019-11-27 12:02:22 +01:00 (CET)
Date last edited 2019-11-29 14:53:30 +01:00 (CET)


Phenotypes

Bardet-Biedl syndrome, type 1 (BBS-1) (BBS1)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000207257 - Familial, autosomal recessive - - - - - severe obesity, polydactylyl, amenorrhea - Jinu Han



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000270577 DNA SEQ-NG Blood Targeted gene panel - 2 Jinu Han



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     
11 Paternal (inferred) +/. - pathogenic (recessive) g.66291004del g.66523533del 908delT - BBS1_000134 - - - - Unknown ? - - - - Jinu Han BBS1 - - - - 10 NM_024649.4:c.908del - r.(?) p.(Val303Glyfs*29) - - - - - - - - - - - - - -
11 Maternal (confirmed) +/. - pathogenic (recessive) g.66294224C>T g.66526753C>T - - BBS1_000075 - - - - Germline yes - - - - Jinu Han BBS1 - - - - 13 NM_024649.4:c.1285C>T - r.(?) p.(Arg429*) - - - - - - - - - - - - - -
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