Individual #00308232

ID_report -
Reference unpublished
Remarks clinical diagnosis TS; sibling tested for TSC2 c.2251C>T and variant absent; parents not tested
Gender ?
Consanguinity ?
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name Rosemary Ekong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Rosemary Ekong
Date created 2020-08-26 10:25:17 +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     
0000233658 tuberous sclerosis macules hypomelanotic;nodules TSC-2 Unknown startle episodes - 4m - - - - - - - Rosemary Ekong



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309376 DNA MCA;SEQ Blood - TSC1, TSC2 2 Rosemary Ekong



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
9 Unknown -?/. - likely benign g.135786013G>A g.132910626G>A p.S403L - TSC1_000078 found with TSC2 nonsense c.2251C>T unpublished - - Germline ? 1/2 individuals tested have the variant - - - Rosemary Ekong TSC1 - - - - 12 NM_000368.4:c.1208C>T - r.(?) p.(Ser403Leu) Tuberin binding domain - - - - - - - - - - - - -
16 Unknown +/. - pathogenic (dominant) g.2122880C>T g.2072879C>T p.R751X, exon 20 - TSC2_000197 found with TSC1 missense c.1208C>T unpublished - - Germline ? 1/2 individuals tested has the variant - - - Rosemary Ekong TSC2 - - - - 21 NM_000548.3:c.2251C>T - r.(?) p.(Arg751*) Hamartin binding domain - - - - - - - - - - - - -
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