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.
Legend  

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     
+?/. 17i c.(1750+?)_(1751-?)ins(518) r.? - p.? DNA insertion (VariO:0142) - - TK - - - - - g.(?_100608339)_(100608858_?)[ins518] - 518 bp insertion between exon 17 and exon 18 - BTK_000829 Published as FSiF583X597, frameshift mutation coding a change in the aminoacid sequence and a premature stop codon PubMed: Lopez-Herrera 2008, IDbase_AccNr: A1484 - - Unknown - - - 0 - Gerard C.P. Schaafsma
Legend