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.
Legend   How to query  

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.32T>C r.(32u>c) p.(Leu11Pro) 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 - - - - ctg -> ccg; 2 Unknown - likely pathogenic g.100630241A>G g.101375253A>G - - BTK_000373 - IDbase_AccNr: A0348 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - - - M - - - - 0 - - 1 Dr. Tracy Lester
+?/. 2 c.32T>C r.(32u>c) p.(Leu11Pro) 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 - - - - ctg -> ccg; 2 Maternal (confirmed) - likely pathogenic g.100630241A>G g.101375253A>G 164T>C - BTK_000373 mother is carrier PubMed: Wang, X. C 2005, PubMed: Wang, Y 2009, IDbase_AccNr: A1070 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P6 ref[1]; P1 ref[2] PubMed: Wang, X. C (2005) PubMed: Wang, Y (2009) - M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.32T>C r.(32u>c) p.(Leu11Pro) 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 - - - - ctg -> ccg; 2 Unknown - likely pathogenic g.100630241A>G g.101375253A>G 164T>C - BTK_000373 - PubMed: Brooimans, R.A 1997, IDbase_AccNr: A0273 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Brooimans, R.A (1997) Relative in BTKbase: A0272; brother M - Netherlands - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.32T>C r.(32u>c) p.(Leu11Pro) 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 - - - - ctg -> ccg; 2 Unknown - likely pathogenic g.100630241A>G g.101375253A>G 164T>C - BTK_000373 - PubMed: Brooimans, R.A 1997, IDbase_AccNr: A0272 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Brooimans, R.A (1997) Relative in BTKbase: A0273; brother M - Netherlands - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.32T>C r.(32u>c) p.(Leu11Pro) 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 - - - - - Maternal (confirmed) - likely pathogenic g.100630241A>G g.101375253A>G 164T>C - BTK_000373 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1768 - - Germline - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 102 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
Legend   How to query