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.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

Classification method     

Clinical classification     

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.117C>A r.(?) p.(Tyr39Ter) DNA substitution (VariO:0136);transversion (VariO:0316) - missing protein (VariO:0240) PH - - - - tac -> taa; 3 - likely pathogenic g.100630156G>T g.101375168G>T c.249C>A - BTK_000059 mother is carrier PubMed: Fiorini, M 2004, IDbase_AccNr: A0939 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 2 c.117C>A r.(?) p.(Tyr39Ter) DNA substitution (VariO:0136);transversion (VariO:0316) - missing protein (VariO:0240) PH - - - - tac -> taa; 3 - likely pathogenic g.100630156G>T g.101375168G>T c.249C>A - BTK_000059 - PubMed: Fiorini, M 2004, IDbase_AccNr: A0940 - - Unknown - - - 0 - Gerard C.P. Schaafsma
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