All transcript variants in gene BTK

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

1 entry on 1 page. Showing entry 1.
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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     

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     

Owner     
+?/. 2i c.(141+?)_(142-?)ins(72) r.? - p.? DNA insertion (VariO:0142) - - PH - - - - - g.(100629623_?)_(?_100630131)[ins72] - 72 bp insertion between exons 2 and 3, IFinsL47 + 24 - BTK_000889 predicted to create an in-frame insertion of 24 amino acids after L47 (IFiL47 + 24) in the PH domain PubMed: Garcia-Garcia 2016, IDbase_AccNr: A1855 - - Germline - - - 0 - Qing Wang
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