Individual #00373721

ID_report iw141
Reference -
Remarks -
Gender M
Consanguinity no
Country China
Population Chinese
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu
Date created 2021-05-19 07:54:55 +02:00 (CEST)
Date last edited 2021-05-28 11:39:47 +02:00 (CEST)


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000268946 - Developmental and epileptic encephalopathy 13 (614558) HP:0004325; HP:0001252; HP:0001250; HP:0001249; HP:0001631; HP:0001263 Familial, autosomal dominant - - - - - - - Wenjuan Qiu



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374954 DNA SEQ-NG blood WGS SCN8A 1 Wenjuan Qiu



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     
12 Unknown +/. ACMG likely pathogenic (dominant) g.52082574T>A g.51688790T>A - - SCN8A_000177 - - - - De novo yes - - - - Wenjuan Qiu SCN8A - - - - 7 NM_014191.3:c.647T>A - r.(?) p.(Val216Asp) - - - - - - - - - - - - - -
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