Individual #00054080

ID_report 1
Reference PubMed: Qin, X (2013)
Remarks -
Gender M
Consanguinity -
Country China
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     
0000040782 - - - 0.027 - 2.975 - - - - 0.061 Diagnosis: Classical XLA; Symptoms: Recurrent pneumonia, arthritis, otitis media Unknown 09y01m - - - 0 - - - - - - - Gerard C.P. Schaafsma



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054027 DNA;DNA ? - - BTK 1 Gerard C.P. Schaafsma



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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 Maternal (confirmed) +?/. - likely pathogenic g.100630271A>T g.101375283A>T c.134T>A - BTK_000584 mother is carrier PubMed: Qin, X 2013, IDbase_AccNr: A1457 - - Germline - - - 0 - Gerard C.P. Schaafsma BTK atg -> aag; 2 - DNA substitution (VariO:0136);transversion (VariO:0316) - RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) 2 NM_000061.2:c.2T>A - r.(2u>a) p.(Met1?) PH - - - - - - - - - - - - - - - - - - -
Legend