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.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.3G>T r.(3g>u) likely pathogenic p.? DNA substitution (VariO:0136);transversion (VariO:0316) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transversion (VariO:0316) - PH - - - - atg -> att; 3 Unknown g.100630270C>A g.101375282C>A - - BTK_000378 - PubMed: Yip, K. L 2000, IDbase_AccNr: A0625 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 1-1 PubMed: Yip, K. L (2000) Relative in BTKbase: A0800; Relative in BTKbase: A0801 - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) likely pathogenic p.? DNA substitution (VariO:0136);transversion (VariO:0316) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transversion (VariO:0316) - PH - - - - atg -> att; 3 Unknown g.100630270C>A g.101375282C>A - - BTK_000378 - PubMed: Noordzij, J. G 2002, IDbase_AccNr: A0831 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 XLA-17 PubMed: Noordzij, J. G (2002) - M - (Netherlands) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) likely pathogenic p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Unknown g.100630270C>A g.101375282C>A 135G>T - BTK_000378 - PubMed: Yip, K. L 2000, IDbase_AccNr: A0800 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 1-2 PubMed: Yip, K. L (2000) Relative in BTKbase: A0625; Relative in BTKbase: A0801 - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) likely pathogenic p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Unknown g.100630270C>A g.101375282C>A 135G>T - BTK_000378 - PubMed: Yip, K. L 2000, IDbase_AccNr: A0801 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 1-3 PubMed: Yip, K. L (2000) Relative in BTKbase: A0625; Relative in BTKbase: A0800 - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) likely pathogenic p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Maternal (confirmed) g.100630270C>A g.101375282C>A 135G>T - BTK_000378 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1441 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-3 PubMed: Lee, P. P (2010) Relative in BTKbase: A1438, cousin; Relative in BTKbase: A1440, cousin; M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) likely pathogenic p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Maternal (confirmed) g.100630270C>A g.101375282C>A 135G>T - BTK_000378 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1440 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-2 PubMed: Lee, P. P (2010) Relative in BTKbase: A1438, cousin; Relative in BTKbase: A1441, cousin; M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) likely pathogenic p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Maternal (confirmed) g.100630270C>A g.101375282C>A 135G>T - BTK_000378 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1438 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-1 PubMed: Lee, P. P (2010) Relative in BTKbase: A1440, cousin; Relative in BTKbase: A1441, cousin M - China - - 0 - - 1 Gerard C.P. Schaafsma
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