Individual #00392774

ID_report F7-II:1
Reference PubMed: Meng 2021
Remarks -
Gender M
Consanguinity no
Country China
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     
0000286020 BMI: 26.3no data, no intellectual disabilityno datano datano data, tooth abnormalities, short statureno datano datano datano data–, best corrected visual acuity right/left eye: 0.2/0.2, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: –, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinograph Bardet-Biedl Syndrome Bardet-Biedl Syndrome Familial, autosomal recessive 8y - 0m - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000394021 DNA SEQ-NG-I blood 131 known inherited retinal disease genes BBS7 1 LOVD



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

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Methylation     

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Gene     

Codon change     

IDbase Accession Number     

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VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
4 Both (homozygous) +/. ACMG pathogenic g.122768595del g.121847440del BBS7 c.1002delT, p.N335Ifs*47 - BBS7_000069 homozygous PubMed: Meng 2021 - - Germline yes - - 0 - LOVD BBS7 - - - - - 10 NM_176824.2:c.1002del - r.(?) p.(Asn335Ilefs*47) - - - - - - - - - - - - - - - - - - -
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