Individual #00054118

ID_report -
Reference PubMed: Brooimans, R.A (1997)
Remarks Relative in BTKbase: A0272; brother
Gender M
Consanguinity -
Country Netherlands
Population -
Age at 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     
0000040820 - - - nd - nd - - - - nd Diagnosis: Classical XLA Unknown - - - - <1 - - - - - - - Gerard C.P. Schaafsma



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054065 DNA;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     

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.100630241A>G g.101375253A>G 164T>C - BTK_000373 - PubMed: Brooimans, R.A 1997, IDbase_AccNr: A0273 - - Unknown - - - 0 - Gerard C.P. Schaafsma BTK ctg -> ccg; 2 - DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) 2 NM_000061.2:c.32T>C - r.(32u>c) p.(Leu11Pro) PH - - - - - - - - - - - - - - - - - - -
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