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.

3 entries on 1 page. Showing entries 1 - 3.
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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.110T>C r.(110u>c) - p.(Leu37Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - ctc -> ccc; 2 g.100630163A>G g.101375175A>G - - BTK_000066 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1336 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 2 c.110T>C r.(110u>c) - p.(Leu37Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - - g.100630163A>G g.101375175A>G - - BTK_000066 - PubMed: Abolhassani 2016, IDbase_AccNr: A1628 - - Unknown - - - 0 - Qing Wang
+?/. 2 c.110T>C r.(110u>c) - p.(Leu37Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - - g.100630163A>G g.101375175A>G 242T>C - BTK_000066 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1735 - - Germline - - - 0 - Qing Wang
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