Individual #00081551

ID_report -
Reference PubMed: Sharma 2016
Remarks -
Gender F
Consanguinity ?
Country (United States)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CLL
Owner name Gerard C.P. Schaafsma


Phenotypes

leukemia, chronic lymphocytic (CLL) (CLL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000061184 - - - Unknown 57y - - - - Gerard C.P. Schaafsma



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081681 DNA SEQ-NG - - BTK 1 Gerard C.P. Schaafsma



Variants

1 entry on 1 page. Showing entry 1.
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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 Unknown +?/. g.100613633T>C g.101358645T>C c.946T>C - BTK_000117 - PubMed: Sharma 2016, IDbase_AccNr: A1676 - - Unknown - - - 0 - Gerard C.P. Schaafsma BTK - - DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) amino acid substitution (VariO:0021) RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308) 11 NM_000061.2:c.946A>G - - r.(946a>g) p.(Thr316Ala) SH2 - - - - - - - - - - - - - - - - - -
Legend