Individual #00420225

ID_report ?
Reference PubMed: Solaki 2022
Remarks number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 0
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
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
Date created 2022-10-31 17:20:38 +01:00 (CET)
Date last edited N/A


Phenotypes

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     
0000311461 - - achromatopsia Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000421500 DNA SEQ blood - CNGA3 2 LOVD



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     
2 Parent #1 +/. ACMG pathogenic g.98986505C>T g.98370042C>T CNGA3 c.67C>T - CNGA3_000028 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - LOVD CNGA3 - - - - - NM_001298.2:c.67C>T - r.(?) p.(Arg23*) - - - - - - - - - - - - - -
2 Parent #2 +?/. ACMG likely pathogenic g.99012444C>A g.98395981C>A CNGA3 c.811C>A - CNGA3_000271 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - LOVD CNGA3 - - - - - NM_001298.2:c.811C>A - r.(?) p.(Pro271Thr) - - - - - - - - - - - - - -
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