Individual #00112432

ID_report -
Reference PubMed: Tarpey 2009
Remarks for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 28
Diseases MRX
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

mental retardation, X-linked (MRX, intellectual disability (IDX)) (MRX;IDX)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Birth_Details     

Protein     

Owner     
0000087996 mental retardation, X-linked - - Unknown - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000112890 DNA SEQ - - NR0B1 1 Johan den Dunnen



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/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     
X Maternal (inferred) +/. - pathogenic g.30326983C>T g.30308866C>T - - NR0B1_000096 recurrent variant; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - rs2269345 Germline - 28/208 - 0 - Johan den Dunnen NR0B1 - - - - 1 NM_000475.4:c.498G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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