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     
+?/. 2 c.30dup r.(30dup) - p.(Leu11Serfs*31) DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH absent - inactive - - g.100630243dup g.101375255dup - - BTK_000374 - PubMed: Holinski-Feder, E 1998, IDbase_AccNr: A0327 - - Germline - - - 0 - Dr. Michael Weiss
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