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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 1i_5i c.-31+4069_391+2400dup r.spl - p.? DNA insertion (VariO:0142) - - PH absent - - - - Maternal (confirmed) g.100622586_100636981dup g.101367598_101381993dup - - BTK_000645 mother is carrier PubMed: Kristufek, D 2007, IDbase_AccNr: A1227 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ-NG blood - XLA;AGMX-1 P7b PubMed: Kristufek, D (2007) Relative in BTKbase: A1226; brother M - Central Europe - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i_5i c.-31+4069_391+2400dup r.spl - p.? DNA insertion (VariO:0142) - - PH absent - - - - Maternal (confirmed) g.100622586_100636981dup g.101367598_101381993dup - - BTK_000645 mother is carrier PubMed: Kristufek, D 2007, IDbase_AccNr: A1226 - - Germline - - - 0 - DNA, RNA ?, RT-PCR, SEQ-NG blood - XLA;AGMX-1 P7a PubMed: Kristufek, D (2007) Relative in BTKbase: A1227; brother M - Central Europe - - 0 - - 1 Gerard C.P. Schaafsma
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