Individual #00053353

ID_report 2
Reference PubMed: Toth, B (2009)
Remarks -
Gender M
Consanguinity -
Country Romania
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases XLA
Owner name Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2010-07-19 00:00:00 +02:00 (CEST)
Date last edited 2019-04-04 17:10:27 +02:00 (CEST)


Phenotypes

agammaglobulinemia, X-linked (XLA, agammaglobulinemia, X-linked, type 1 (AGMX-1)) (XLA;AGMX1)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Kinase activity     

IgA (g/l)     

IgE (g/l)     

IgG (g/l)     

IgG1 (g/l)     

IgG2 (g/l)     

IgG3 (g/l)     

IgG4 (g/l)     

IgM (g/l)     

B cells (%)     

B cells surf Ig (%)     

CD3     

CD4     

CD8     

CD19     

CD20     

Protein     

Owner     
0000040055 - - Diagnosis: Classical XLA Unknown 02y06m - - - - 0.15 - 0.53 - - - - 0.20 0.1 - - - - - - - Gerard C.P. Schaafsma



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000053300 DNA ? - - BTK 1 Gerard C.P. Schaafsma



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     
X Unknown +/+ - pathogenic g.100630244A>T g.101375256A>T - - BTK_000375 - PubMed: Toth, B 2009, IDbase_AccNr: A1370 - - Unknown - - - - - Gerard C.P. Schaafsma BTK - DNA substitution (VariO:0136);transversion (VariO:0316) amino acid substitution (VariO:0021) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) 2 NM_000061.2:c.29T>A - r.(29u>a) p.(Phe10Tyr) PH - - - - - - - - - - - - -
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