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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+?/. 2i c.141+1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - g.100630131C>T g.101375143C>T - - BTK_000133 - PubMed: Gaspar, H. B 1995, IDbase_AccNr: A0159 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 2i c.141+1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - g.100630131C>T g.101375143C>T - - BTK_000133 - IDbase_AccNr: A0188 - - Germline - - - 0 - Patrizia Melia
+?/. 2i c.141+1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - g.100630131C>T g.101375143C>T GGG(g>a)taag - BTK_000133 - PubMed: Vorechovsky, I 1997, IDbase_AccNr: A0247, ESID IT 0435 MXX G1 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 2i c.141+1G>A r.spl likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - g.100630131C>T g.101375143C>T g.IVS2+1G>A - BTK_000133 mother is carrier PubMed: Danielian, S 2003, IDbase_AccNr: A0866 - - Germline - - - 0 - Gerard C.P. Schaafsma
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