Individual #00311064

ID_report Individual 17
Reference PubMed: Chen 2016
Remarks -
Gender M
Consanguinity ?
Country ? (unknown)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases neuropathy, optic
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet


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     
0000236330 Ventouse delivery (HP:0011412); Neurodevelopmental delay (HP:0012758); Attention deficit hyperactivity disorder (HP:0007018); Strabismus (HP:0000486); Optic atrophy (HP:0000648); Hypermetropia (HP:0000540); Red-green dyschromatopsia (HP:0000642); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Downslanted palpebral fissures (HP:0000494); Joint hypermobility (HP:0001382); Clinodactyly of the 5th finger (HP:0004209); Broad foot (HP:0001769); Long hallux (HP:0001847); Short 4th toe (HP:0008093); Short 5th toe (HP:0011917); Hypoplasia of the fovea (HP:0007750); Nystagmus (HP:0000639) - - Familial, autosomal dominant 35y - ? - - Benjamin Billiet



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312216 DNA SEQ-NG - - NR2F1 1 Benjamin Billiet



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     

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Re-site     

VIP     

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Owner     

Gene     

Codon change     

IDbase Accession Number     

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VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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Protein     

P-domain     

Exon_old     

Function/GVS     

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Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
5 Parent #1 +?/. - likely pathogenic (dominant) g.(?_92910393)_(93806933_?)del - 92910393_93806933del - NR2F1_000043 0.9Mb deletion PubMed: Chen 2016 - - Unknown yes - - 0 - Benjamin Billiet NR2F1 - - - - - _1_3_ NM_005654.4:c.-1687_*240{0} - r.0 p.0 - - - - - - - - - - - - - - - - - - -
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