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     
+?/. - c.(1632-?)_(1908+?)del r.? - p.? DNA deletion (VariO:0141) - - TK - - - - - g.(?_100608182)_(100608976_?)del - - - BTK_000828 large undefined deletion, exon 17, 18 absent. Exons 15, 16 variably skipped; mother is carrier PubMed: Haire, R. N (1997); IDbase_AccNr: A0287 - - Unknown - - - 0 - Dr. Gary W. Litman
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