Individual #00225647

ID_report Patients 1 and 2
Reference PubMed: Metodiev 2014
Remarks 2 affected
Gender M
Consanguinity ?
Country France
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases neuropathy, optic, blindness
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau


Phenotypes

blindness (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000170750 Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528) - Optic atrophy Familial, autosomal recessive - 20y? 05y? - - Thomas Foulonneau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227426 DNA SEQ - - ACO2 2 Thomas Foulonneau



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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
22 Parent #1 +/. - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Metodiev 2014 - - Germline yes - - 0 - Thomas Foulonneau ACO2 - - - - 3 NM_001098.2:c.220C>G - r.(?) p.(Leu74Val) - - - - - - - - - - - - - - - - - - -
22 Parent #2 +/. - likely pathogenic (recessive) g.41923319G>C g.41527315G>C - - ACO2_000027 - PubMed: Metodiev 2014 - - Germline yes - - 0 - Thomas Foulonneau ACO2 - - - - 16 NM_001098.2:c.1981G>C - r.(?) p.(Gly661Arg) - - - - - - - - - - - - - - - - - - -
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