Individual #00054375

ID_report P7a
Reference PubMed: Kristufek, D (2007)
Remarks Relative in BTKbase: A1227; brother
Gender M
Consanguinity -
Country Central Europe
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases XLA
Owner name Gerard C.P. Schaafsma


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     
0000041077 - - - <0.06 - 4.17 - - - - <0.04 Diagnosis: Classical XLA Unknown 33y - - - - - - - - 0 - - Gerard C.P. Schaafsma



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054322 DNA;RNA ?;RT-PCR;SEQ-NG blood - BTK 1 Gerard C.P. Schaafsma



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
X Maternal (confirmed) +?/. g.100622586_100636981dup g.101367598_101381993dup - - BTK_000645 mother is carrier PubMed: Kristufek, D 2007, IDbase_AccNr: A1226 - - Germline - - - 0 - Gerard C.P. Schaafsma BTK - - DNA insertion (VariO:0142) - - 1i_5i NM_000061.2:c.-31+4069_391+2400dup - - r.spl p.? PH - - - - - - - - - - - - - - - - - absent
Legend