Full data view for gene BTK

BTKbase is part of the IDbases
Information The variants shown are described using the NM_000061.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. _1_19_ c.(?_-193)_(*438_?)del r.spl p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown - likely pathogenic g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0005 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Vetrie (1993) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. _1_19_ c.(?_-193)_(*438_?)del r.spl p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown - likely pathogenic g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0006 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Vetrie (1993) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. _1_19_ c.(?_-193)_(*438_?)del r.spl p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown - likely pathogenic g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0007 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Vetrie (1993) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. _1_19_ c.(?_-193)_(*438_?)del r.spl p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown - likely pathogenic g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0008 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Vetrie (1993) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
Legend