Individual #00431216

ID_report Pat2
Reference PubMed: Endele 2010
Remarks -
Gender M
Consanguinity -
Country Germany
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 2023-02-03 14:22:23 +01:00 (CET)
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     
0000321822 neurodevelopmental delay - microcephaly, severe intellectual disability, no seizures; EEG irregular slow dysrhythmia, occipital abortive sharp waves; behavioral anomalies; MRI abnormalities; no facial dysmorphism; eye anomalies; choanal atresia, cryptorchidism, inguinal hernia, flat feet Isolated (sporadic) 12y - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000432630 DNA FISH;microscope - - GRIN2B 1 Johan den Dunnen



Variants

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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     
12 Unknown +/. - pathogenic (dominant) g.(13968732_14018731)_qterdelins[NC_000009.11:g.pter_(52900001_70600000)inv] g.(13815798_13865797)_qterdelins[NC_000009.12:g.pter_(51100001_68800000)inv] - 46,XY t(10;12)(q21.1;p13.1) GRIN2B_000206 - PubMed: Endele 2010 - - De novo - - - - - Johan den Dunnen GRIN2B - - - - 2i NM_000834.3:c.(411+1_411+50000)delinsN[?] - r.? p.? - - - - - - - - - - - - - -
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