Individual #00081580

ID_report 20
Reference PubMed: Aadam 2016
Remarks -
Gender M
Consanguinity ?
Country Algeria
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases XLA
Owner name Qing Wang


Phenotypes

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

AscendingPhenotype ID     

Diagnosis/Initial     

Kinase activity     

Diagnosis/Definite     

IgA (g/l)     

IgE (g/l)     

IgG (g/l)     

IgG1 (g/l)     

IgG2 (g/l)     

IgG3 (g/l)     

IgG4 (g/l)     

IgM (g/l)     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

B cells (%)     

B cells surf Ig (%)     

CD3     

CD4     

CD8     

CD19     

CD20     

Protein     

Owner     
0000061213 - - - <0.28 - <1.86 - - - - <0.297 Symptoms: Pneumonia. Familial, X-linked recessive - 01y 00y06m - 0.15 - - - - - - - Qing Wang



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081710 DNA PCR;SEQ - - BTK 1 Qing Wang



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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Unknown +?/. - likely pathogenic g.100641051_100641213del g.101386063_101386225del Exon 1 deletion - BTK_000845 - PubMed: Aadam 2016, IDbase_AccNr: A1572 - - Unknown - - - 0 - Qing Wang BTK - - DNA deletion (VariO:0141) - - 1 NM_000061.2:c.-193_-31del - r.spl p.(=) - - - - - - - - - - - - - - - - - - - -
Legend