Individual #00389744

ID_report 1028
Reference PubMed: Weisschuh 2020
Remarks Filing key number: 563, cone dystrophy, no patient Ids, consecutive numbers given
Gender F
Consanguinity -
Country Germany
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 2021-11-08 10:11:04 +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     
0000283285 age at genetic diagnosis mentioned - cone dystrophy Familial, autosomal recessive 24y 20y - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000390987 DNA SEQ-NG blood RET7 targeted sequencing panel - see paper CNGA3 2 LOVD



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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 +?/. - likely pathogenic g.99012539G>T g.98396076G>T CNGA3, variant 1: c.906G>T/p.R302S, variant 2: c.1319G>C/p.W440S - CNGA3_000178 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - LOVD CNGA3 - - - - - NM_001298.2:c.906G>T - r.(?) p.(Arg302Ser) - - - - - - - - - - - - - -
2 Parent #1 +?/. - likely pathogenic g.99012952G>C g.98396489G>C CNGA3, variant 1: c.906G>T/p.R302S, variant 2: c.1319G>C/p.W440S - CNGA3_000181 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - LOVD CNGA3 - - - - - NM_001298.2:c.1319G>C - r.(?) p.(Trp440Ser) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.