Individual #00234409

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2019-05-17 09:46:50 +02:00 (CEST)
Date last edited 2019-05-17 09:54:53 +02:00 (CEST)


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000174818 - - HP:0000548 (Cone/cone-rod dystrophy) Unknown - - - - - - - IMGAG



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235512 DNA SEQ - - - 2 IMGAG



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 Unknown +/. - pathogenic g.29294424T>A g.29071558T>A - - C2orf71_000096 - - - - Unknown - - - - - IMGAG C2orf71, CNGA3 - - - - - NM_001029883.2:c.2704A>T, NM_001298.2:c.-69668611T>A - r.(?), r.(=) p.(Lys902*), p.(=) - - - - - - - - - - - - - -
2 Unknown +/. - pathogenic g.29296355_29296356del g.29073489_29073490del - - C2orf71_000060 - - - - Unknown - - - - - IMGAG C2orf71, CNGA3 - - - - - NM_001029883.2:c.776_777del, NM_001298.2:c.-69666684_-69666683del - r.(?), r.(=) p.(Glu259Alafs*51), p.(=) - - - - - - - - - - - - - -
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