Individual #00054176

ID_report P2-II
Reference PubMed: Aghamohammadi, A (2006)
Remarks Relative in BTKbase: A1203;maternal uncle
Gender M
Consanguinity -
Country Iran
Population Caucasoid
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases XLA
Owner name Asghar Aghamohammadi
Database submission license No license selected
Created by Asghar Aghamohammadi
Date created 2006-11-15 00:00:00 +01:00 (CET)
Date last edited 2018-08-22 22:37:26 +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     
0000040878 - - Diagnosis: Classical XLA; Symptoms: Diarrhea, Recurrent otitis media Unknown 0y10m - - - - 0.04 - 0.9 - - - - 0.14 - - - - - <1% - - Asghar Aghamohammadi



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054123 DNA ? - - BTK 1 Asghar Aghamohammadi



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     

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Reference     

ClinVar ID     

dbSNP ID     

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VIP     

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Owner     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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RNA change     

Protein     

P-domain     

Exon_old     

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Predict/MutationTaster     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
X Unknown +/+ - pathogenic g.100641045C>G g.101386057C>G IVS1+5G>C - BTK_000304 Splice donor defect PubMed: Aghamohammadi, A 2006, IDbase_AccNr: A1204 - - Unknown - - - - - Asghar Aghamohammadi BTK - DNA substitution (VariO:0136);transversion (VariO:0316) missing protein (VariO:0240) RNA splicing change (VariO:0334) 1i NM_000061.2:c.-31+5G>C - r.spl p.0 - - - - - - - - - - - - - absent
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