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     
+?/. 1i c.-31+5G>C r.(spl?) p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) - likely pathogenic g.100641045C>G g.101386057C>G IVS1+5G>C - BTK_000304 splice donor defect PubMed: Aghamohammadi, A 2006, IDbase_AccNr: A1203 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P2-I PubMed: Aghamohammadi, A (2006) Relative in BTKbase: A1204;nephew M - Iran Caucasoid - 0 - - 1 Asghar Aghamohammadi
+?/. 1i c.-31+5G>C r.(spl?) p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) - likely pathogenic g.100641045C>G g.101386057C>G IVS1+5G>C - BTK_000304 Splice donor defect PubMed: Aghamohammadi, A 2006, IDbase_AccNr: A1204 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P2-II PubMed: Aghamohammadi, A (2006) Relative in BTKbase: A1203;maternal uncle M - Iran Caucasoid - 0 - - 1 Asghar Aghamohammadi
+?/. 1i c.-31+5G>C r.(spl?) p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) - likely pathogenic g.100641045C>G g.101386057C>G ivs1+5G>C - BTK_000304 - PubMed: Abolhassani 2016, IDbase_AccNr: A1618 - - Unknown - - - 0 - DNA DHPLC, SEQ-NG, PCR - - XLA;AGMX-1 F3-1 PubMed: Abolhassani 2016 Relative in BTKbase: A1619 and A1620 M ? Iran - - 0 - - 1 Qing Wang
+?/. 1i c.-31+5G>C r.(spl?) p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) - likely pathogenic g.100641045C>G g.101386057C>G ivs1+5G>C - BTK_000304 - PubMed: Abolhassani 2016, IDbase_AccNr: A1619 - - Unknown - - - 0 - DNA DHPLC, SEQ-NG, PCR - - XLA;AGMX-1 F3-2 PubMed: Abolhassani 2016 Relative in BTKbase: A1618 and A1620 M ? Iran - - 0 - - 1 Qing Wang
+?/. 1i c.-31+5G>C r.(spl?) p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) - likely pathogenic g.100641045C>G g.101386057C>G ivs1+5G>C - BTK_000304 - PubMed: Abolhassani 2016, IDbase_AccNr: A1620 - - Unknown - - - 0 - DNA DHPLC, SEQ-NG, PCR - - XLA;AGMX-1 F3-3 PubMed: Abolhassani 2016 Relative in BTKbase: A1618 and A1619 M ? Iran - - 0 - - 1 Qing Wang
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