Individual #00289017

ID_report -
Reference Journal: Charif 2021
Remarks 3 generations, 3 carriers, 2 affected
Gender M
Consanguinity ?
Country France
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel ID 00275992
Panel size 1
Diseases neuropathy, optic
Owner name Khadidja Guehlouz
Database submission license No license selected
Created by Khadidja Guehlouz
Date created 2020-02-25 10:16:23 +01:00 (CET)
Date last edited 2021-05-06 16:02:13 +02:00 (CEST)


Phenotypes

neuropathy, optic (neuropathy, optic)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000222652 - - - Familial, autosomal dominant 35y - - - - Khadidja Guehlouz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290186 DNA SEQ-NG blood - ACO2 1 Khadidja Guehlouz



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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
22 Maternal (confirmed) +/. - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Journal: Charif 2021 - - Germline yes - - - - Khadidja Guehlouz ACO2 - - - - 4 NM_001098.2:c.441C>G - r.(?) p.(Asn147Lys) - - - - - - - - - - - - - -
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