Individual #00415293

ID_report 06C58462
Reference PubMed: Kozlova 2022, Journal: Kozlova 2022
Remarks -
Gender F
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SCZD
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 2022-08-11 09:27:55 +02:00 (CEST)
Date last edited N/A


Phenotypes

schizophrenia (SCZD) (SCZD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000307089 schizophrenia, depressive disorder NOS; completed 9th grade; COPD; hypothyroidism; migraines; stomach ulcers; unspecified learning disorder or hyperactivity - - Unknown 54y - 20y schizophrenia - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416573 DNA SEQ - - OTUD7A 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     
15 Unknown +/. - likely pathogenic g.31862287G>A g.31570084G>A - - OTUD7A_000003 - PubMed: Kozlova 2022, Journal: Kozlova 2022 - rs757148409 Germline/De novo (untested) - - - - - Johan den Dunnen OTUD7A - - - - - NM_001382637.1:c.265C>T - r.(?) p.(Arg89Ter) - - - - - - - - - - - - - -
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