Individual #00305427

ID_report patient
Reference Rots ESHG2020 C02.4
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NDD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-25 14:53:48 +02:00 (CEST)
Date last edited N/A


Phenotypes

neurodevelopmental disorder (NDD) (NDD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000231277 neurodevelopmental disorder - see paper; ..., speech delay, intellectual disability, normal height, normal bone age, subtle facial dysmorphism, autism spectrum disorder, severe behavioural problems Isolated (sporadic) - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306556 DNA SEQ;SEQ-NG - WES SRCAP 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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
16 Unknown +/. - pathogenic (dominant) g.30722114C>T g.30710793C>T (Gln392*) - SRCAP_000125 - Rots ESHG2020 C02.4 - - De novo - - - - - Johan den Dunnen SRCAP - - - - - NM_006662.2:c.1174C>T - r.(?) p.(Gln392*) - - - - - - - - - - - - - -
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