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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 1i c.-31+5G>A r.(spl?) p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Unknown - likely pathogenic g.100641045C>T g.101386057C>T - - BTK_000302 - PubMed: Chun, J. K 2008, IDbase_AccNr: A1251 - - Germline - - - 0 - DNA PCR, SEQ-NG, SSCA - - XLA;AGMX-1 14 PubMed: Chun, J. K (2008) - M - Korea, South (Republic) Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+5G>A r.(spl?) p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Maternal (confirmed) - likely pathogenic g.100641045C>T g.101386057C>T - - BTK_000302 mother is carrier PubMed: Jo, E. K 2001, IDbase_AccNr: A0783 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-2 PubMed: Jo, E. K (2001) Relative in BTKbase: A0782; brother M - Korea - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+5G>A r.(spl?) p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Maternal (confirmed) - likely pathogenic g.100641045C>T g.101386057C>T - - BTK_000302 mother is carrier PubMed: Jo, E. K 2001, IDbase_AccNr: A0782 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-1 PubMed: Jo, E. K (2001) Relative in BTKbase: A0783; brother M - Korea - - 0 - - 1 Gerard C.P. Schaafsma
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