Individual #00179461

ID_report 21753765-Pat3
Reference PubMed: Arai 2011
Remarks -
Gender M
Consanguinity -
Country Japan
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases XLA
Owner name Johan den Dunnen


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     
0000141947 agammaglobulinemia - XLA - - - - - - - - agammaglobulinemia; 3y-sensorineural hearing loss Familial, X-linked recessive - - - - - - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180365 DNA PCR;SEQ - - BTK 1 Johan den Dunnen



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 +/. - pathogenic g.100443248_100639269del g.101188262_101384283del - - BTK_000931 196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?) PubMed: Arai 2011 - - Germline - - - 0 - Johan den Dunnen BTK, DRP2, TAF7L, TIMM8A - - - - - 1i_19_, _1_24_, _1_13_, _1_2_ NM_000061.2:c.-31+1781_*161625del, NM_001939.2:c.-32054_*123659del, NM_024885.3:c.-91236_*80933del, NM_004085.3:c.-35617_*158239del - r.0?, r.0 p.0?, p.0 - - - - - - - - - - - - - - - - - - - -
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