Individual #00281587

ID_report 7323
Reference PubMed: Suspitsin, 2018
Remarks 5 mth old index with clinical signs of TSC; has white forelock
Gender M
Consanguinity -
Country Russia
Population Slavic
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases TSC
Owner name Rosemary Ekong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Rosemary Ekong
Date created 2018-05-24 23:01:25 +02:00 (CEST)
Date last edited N/A


Phenotypes

tuberous sclerosis (TSC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

TSC/Features     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Seizures     

Intellectual_dis     

Protein     

Cognitive/Impairment     

Development     

Owner     
0000216168 possible tuberous sclerosis - TSC-2 Isolated (sporadic) hypomelanotic macules, epilepsy - - - - - - - - - Rosemary Ekong



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282733 DNA SEQ-NG-I Blood - TSC2 1 Rosemary Ekong



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     
16 Unknown +/. - pathogenic g.2120572G>A g.2070571G>A - - TSC2_000105 - PubMed: Suspitsin, 2018 - - De novo - - - - - Rosemary Ekong TSC2 - - - - 17 NM_000548.3:c.1832G>A - r.(?) p.(Arg611Gln) Hamartin binding domain - - - - - - - - - - - - -
Legend   How to query  


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