Individual #00311174

ID_report Individual 2
Reference PubMed: Chen 2016
Remarks -
Gender F
Consanguinity ?
Country ? (unknown)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BBSOAS
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet


Phenotypes

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) (BBSOAS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000236427 Abnormal visual fixation (HP:0025404); Feeding difficulties in infancy (HP:0008872); Infantile spasms (HP:0012469); Hypoplasia of the corpus callosum (HP:0002079); Cerebral white matter hypoplasia (HP:0012430); Delayed ability to sit (HP:0025336); Muscular hypotonia (HP:0001252); Esotropia (HP:0000565); Amblyopia (HP:0000646); Global developmental delay (HP:0001263); Cerebral visual impairment (HP:0100704) - - Isolated (sporadic) 04y - 00y04m - - Benjamin Billiet



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312330 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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

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     
5 Parent #1 +?/. - likely pathogenic (dominant) g.92921132C>A - - - NR2F1_000075 - PubMed: Chen 2016 - - De novo ? - - - - Benjamin Billiet NR2F1 - - - - - - NM_005654.4:c.403C>A - r.(?) p.(Arg135Ser) - - - - - - - - - - - - - - - - - - -
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