Q103* (p.Gln103Ter) variant of BTK (Tyrosine-protein kinase BTK)
Q103* (p.Gln103Ter) in BTK (Tyrosine-protein kinase BTK) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLA. The record also includes structural context.
Q103* (p.Gln103Ter) variant details
- p.Gln103Ter
- rs886039657
- ClinGen CA10588733
- ClinVar RCV000255735
- Ensembl rs886039657
- Pathogenic
- in XLA
- Stop Gained
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available