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.

5 entries on 1 page. Showing entries 1 - 5.
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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_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100629524_100630302del g.101374536_101375314del - - BTK_000451 - IDbase_AccNr: A0534 - - Unknown - - - 0 - Hans D. Ochs, Prof. Dr.
+?/. 2_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100629524_100630302del g.101374536_101375314del EX2-EX3del - BTK_000451 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1444 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 2_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100629524_100630302del g.101374536_101375314del EX2_EX3del - BTK_000451 - PubMed: Yip 2000, IDbase_AccNr: A0631 - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/. 2_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100629524_100630302del g.101374536_101375314del - - BTK_000451 Deletion of exon 2 to exon 3 PubMed: Singh 2016, IDbase_AccNr: A1610 - - Unknown - - - 0 - Qing Wang
+?/. 2_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - g.100629524_100630302del g.101374536_101375314del exon 2-3 deletion - BTK_000451 - PubMed: Chen XF, 2016, IDbase_AccNr: A1778 - - Unknown - - - 0 - Qing Wang
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