Individual #00358818

ID_report AR704-0311
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     
0000254033 see paper; ... Bardet-Biedl Syndrome - Unknown - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360048 DNA arrayCGH;PCRlr;SEQ-NG - - BBS10, NPHP1, TTC8 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) +/. - pathogenic g.110875689_110967529del - del whole gene - NPHP1_000081 91,840 bp deletion PubMed: Lindstrand 2016 - - Germline - - - - - LOVD NPHP1 - - - - - NM_000272.3:c.-4984_*5679del, NM_001128178.1:c.-4984_*5679del - r.0? p.0? - - - - - - - - - - - - - -
12 Paternal (confirmed) ?/. - VUS g.76741994G>A g.76348214G>A - - BBS10_000097 - PubMed: Lindstrand 2016 - - Germline - - - - - LOVD BBS10 - - - - - NM_024685.3:c.145C>T - r.(?) p.(Arg49Trp) - - - - - - - - - - - - - -
14 Maternal (confirmed) ?/. - VUS g.89338702A>G g.88872358A>G - - TTC8_000029 hypomorph PubMed: Lindstrand 2016 - - Germline - - - - - LOVD TTC8 - - - - - NM_144596.2:c.1253A>G - r.(?) p.(Gln418Arg) - - - - - - - - - - - - - -
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