Full data view for 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     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.95T>C r.(95u>c) p.Leu32Ser 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 - - - - ttg -> tcg; 2 Unknown - likely pathogenic g.100630178A>G g.101375190A>G 227C>T - BTK_000070 - PubMed: Yip, K. L 2000, IDbase_AccNr: A0632 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 7 PubMed: Yip, K. L (2000) - - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.95T>C r.(95u>c) p.(Leu32Ser) 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 - - - - ttg -> tcg; 2 Unknown - likely pathogenic g.100630178A>G g.101375190A>G - - BTK_000070 - PubMed: Kanegane, H 2001, IDbase_AccNr: A0988 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P3-2 PubMed: Kanegane, H (2001) Relative in BTKbase: A0987; brother M - Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.95T>C r.(95u>c) p.(Leu32Ser) 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 - - - - ttg -> tcg; 2 Unknown - likely pathogenic g.100630178A>G g.101375190A>G - - BTK_000070 - PubMed: Kanegane, H 2001, IDbase_AccNr: A0987 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P3-1 PubMed: Kanegane, H (2001) Relative in BTKbase: A0988; brother M - Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.95T>C r.(95u>c) p.(Leu32Ser) 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 - - - - ttg -> tcg; 2 Unknown - likely pathogenic g.100630178A>G g.101375190A>G - - BTK_000070 - PubMed: Kanegane, H 2001, PubMed: Hashimoto, S 1999, IDbase_AccNr: A0986 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 P2 PubMed: Kanegane, H (2001) PubMed: Hashimoto, S (1999) - M - Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.95T>C r.(95u>c) p.(Leu32Ser) 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 - - - - ttg -> tcg; 2 Maternal (confirmed) - likely pathogenic g.100630178A>G g.101375190A>G 227T>C - BTK_000070 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1446 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P6 PubMed: Lee, P. P (2010) - M - China - - 0 - - 1 Gerard C.P. Schaafsma
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