Annotation Detail
Information
- Associated Genes
- TUBB3
- Associated Variants
-
TUBB3 p.Glu288Lys (p.E288K), ENSG00000198211 p.Glu635Lys (p.E635K)
(
ENST00000554444.5,
ENST00000555576.5,
ENST00000315491.12 )
TUBB3 p.Glu288Lys (p.E288K), ENSG00000198211 p.Glu635Lys (p.E635K) ( ENST00000315491.12, ENST00000554444.5, ENST00000555576.5 ) - Associated Disease
- complex cortical dysplasia with other brain malformations 1
- Source Database
- ClinVar
- Description
- NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) AND Complex cortical dysplasia with other brain malformations 1
- ClinVar Allele ID
- 377988
- ClinVar RefSeq Alternation Syntax
- NM_006086.4:c.862G>A
- ClinVar RefSeq Alternation Syntax
- NM_001197181.2:c.646G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-12-08
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000824822
- ClinVar Disease
- Complex cortical dysplasia with other brain malformations 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
Drugs