Individual #00133656

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Bernt Popp
Database submission license No license selected
Created by Bernt Popp
Date created 2017-11-16 12:55:52 +01:00 (CET)
Date last edited 2017-11-17 14:57:31 +01:00 (CET)


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000106406 - - Isolated (sporadic) moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); severe speech delay (HP:0000750) - - - - - Bernt Popp



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134494 DNA SEQ-NG - - - 1 Bernt Popp



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
8 Unknown +?/. - likely pathogenic g.22865223C>T g.23007710C>T - - RHOBTB2_000003 - - - - De novo - - - - - Bernt Popp RHOBTB2 - - - - - NM_001160036.1:c.1531C>T - r.(?) p.(Arg511Trp) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.