Individual #00395040

ID_report K105
Reference PubMed: Zacchia 2021
Remarks -
Gender ?
Consanguinity -
Country (Italy)
Population -
Age at death -
VIP 0
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 Anna Tracewska


Phenotypes

retinal disease (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     
0000288240 - - Bardet-Biedl syndrome Unknown - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396286 DNA SEQ-NG blood 115 genes causing different inherited kidney diseases BBS12 1 LOVD



Variants

1 entry on 1 page. Showing entry 1.
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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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
4 Unknown +/. ACMG pathogenic g.123663945C>T g.122742790C>T BBS12 c.898C>T, p.Q300X - BBS12_000154 homozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - 0 - LOVD BBS12 - - - - - NM_001178007.1:c.898C>T, NM_152618.2:c.898C>T - r.(?) p.(Gln300Ter), p.(Gln300*) - - - - - - - - - - - - - - - - - - -
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