Individual #00223844

ID_report -
Reference PubMed: Tsai, 2011
Remarks variant seen in unaffected family member
Gender ?
Consanguinity -
Country Taiwan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Rosemary Ekong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Rosemary Ekong
Date created 2012-06-22 22:29:12 +02:00 (CEST)
Date last edited N/A


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000168958 - unaffected - Unknown - - - - - Rosemary Ekong



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000224919 DNA DHPLC;MCA Blood - TSC1 2 Rosemary Ekong



Variants

2 entries on 1 page. Showing entries 1 - 2.
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     
9 Unknown -/. - benign g.135772717G>A g.132897330G>A p.A943A - TSC1_000184 found with TSC1 intronic variant c.106+15A>G PubMed: Tsai, 2011 - - Unknown - - AciI-, HaeIII- - - Rosemary Ekong TSC1 - - - - 22 NM_000368.4:c.2829C>T - r.(?) p.(Ala943=) ERM interaction domain - - - - - - - - - - - - -
9 Unknown -/. - benign g.135804139T>C g.132928752T>C Intron 3 - TSC1_000001 found with TSC1 silent variant c.2829C>T PubMed: Tsai, 2011 - - Unknown - - - - - Rosemary Ekong TSC1 - - - - 3i NM_000368.4:c.106+15A>G - r.(?) p.(=) - - - - - - - - - - - - - -
Legend   How to query  


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