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.43C>T r.(?) p.(Gln15Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - caa -> taa; 1 Unknown - likely pathogenic g.100630230G>A g.101375242G>A - - BTK_000335 - IDbase_AccNr: A0562 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 - - - - - - - - 0 - - 1 Dr. Mary-Ellen Conley
+?/. 2 c.43C>T r.(?) p.(Gln15Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - caa -> taa; 1 Unknown - likely pathogenic g.100630230G>A g.101375242G>A - - BTK_000335 - PubMed: Conley, M. E 1994, IDbase_AccNr: A0082 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 4 PubMed: Conley, M. E (1994) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.43C>T r.(?) p.(Gln15Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - caa -> taa; 1 Maternal (confirmed) - likely pathogenic g.100630230G>A g.101375242G>A - - BTK_000335 mother is carrier PubMed: Hagemann, T. L 1995, IDbase_AccNr: A0163 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 A IV-2 PubMed: Hagemann, T. L (1995) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.43C>T r.(?) p.(Gln15Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - caa -> taa; 1 Unknown - likely pathogenic g.100630230G>A g.101375242G>A - - BTK_000335 - IDbase_AccNr: A0349 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - - 4 affected males in 2 generations M - - - - 0 - - 1 Dr. Tracy Lester
+?/. 2 c.43C>T r.(?) p.(Gln15Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - caa -> taa; 1 Unknown - likely pathogenic g.100630230G>A g.101375242G>A - - BTK_000335 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1083 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 0390 153 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - 1 Gerard C.P. Schaafsma
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