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.

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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     
+?/. 2 c.82delC r.(82del) - p.(Arg28Alafs*5) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) protein truncation (VariO:0015);amphigoric amino acid indel (VariO:0023) PH - - - - - g.100630191delG g.101375203delG - - BTK_000903 mother is carrier; maternal grandmother is carrier; cousin is carrier PubMed: Lee J, et al. 2016, IDbase_AccNr: A1811 - - Germline - - - 0 - Qing Wang
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