H105N (p.His105Asn) variant of TUBB3 (Tubulin beta-3 chain)
H105N (p.His105Asn) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex cortical dysplasia with other brain malformations 1. The record also includes published literature and structural context.
H105N (p.His105Asn) variant details
- p.His105Asn
- rs2544627057
- ClinGen CA397474185
- ClinVar RCV002291127
- Likely pathogenic
- Complex cortical dysplasia with other brain malformations 1
- Missense
- ClinVar: Likely pathogenic (Complex cortical dysplasia with other brain malformations 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)