Individual #00358812

ID_report AR240-03
Reference PubMed: Lindstrand 2016
Remarks -
Gender F
Consanguinity no
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BBS
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-12 18:57:14 +01:00 (CET)
Date last edited N/A


Phenotypes

Bardet-Biedl syndrome (BBS) (BBS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000254027 see paper; ... Bardet-Biedl Syndrome - Unknown 21y - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360042 DNA arrayCGH;PCRlr;SEQ-NG - - BBS1, BBS5 3 LOVD



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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 Maternal (confirmed) ?/. - VUS g.170350279A>G g.169493769A>G - - BBS5_000035 - PubMed: Lindstrand 2016 - - Germline - - - - - LOVD BBS5 - - - - - NM_152384.2:c.551A>G - r.(?) p.(Asn184Ser) - - - - - - - - - - - - - -
11 Maternal (confirmed) +/. - pathogenic g.66290130_66305022del - del exon10_17 - BBS1_000160 14,892 bp deletion PubMed: Lindstrand 2016 - - Germline - - - - - LOVD BBS1, ZDHHC24 - - - - - NM_024649.4:c.831-797_*5514del, NM_207340.1:c.*1978_*16870del - r.0?, r.(=) p.0?, p.(=) - - - - - - - - - - - - - -
11 Paternal (confirmed) +/. - pathogenic g.66293652T>G g.66526181T>G - - BBS1_000001 - PubMed: Lindstrand 2016 - rs113624356 Germline - - - - - LOVD BBS1 - - - - - NM_024649.4:c.1169T>G - r.(?) p.(Met390Arg) - - - - - - - - - - - - - -
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