Individual #00043808

ID_report Individual 6
Reference PubMed: Bosch 2014, Journal: Bosch 2014
Remarks -
Gender F
Consanguinity no
Country United States
Population -
Age at death >35y (later than 35 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


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     
0000034037 - - Underfolded helix (HP:0008577); Darwin tubercle of helix (HP:0011261); Pointed chin (HP:0000307); Synophrys (HP:0000664); Dysdiadochokinesis (HP:0002075); Spasticity (HP:0001257); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Keratoconus (HP:0000563); Optic atrophy (HP:0000648); Retinal atrophy (HP:0001105); Absent foveal reflex (HP:0030825); Keratoconjunctivitis sicca (HP:0001097); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Obsessive-compulsive behavior (HP:0000722) Isolated (sporadic) 35y - - - - - - Marc Ferre



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000044053 DNA SEQ - - NR2F1 1 Marc Ferre



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 +/. - pathogenic (dominant) g.92921064G>A g.93585358G>A - - NR2F1_000004 - PubMed: Bosch 2014, Journal: Bosch 2014, OMIM:var0004 - rs587777277 De novo - - - 0 - Marc Ferre NR2F1 - - - - - 1 NM_005654.4:c.335G>A - r.(?) p.(Arg112Lys) - - - - - - - - - - - - - - - - - - -
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