Annotation Detail
Information
- Associated Genes
- BUB1B
- Associated Variants
-
BUB1B p.Arg814His (p.R814H)
(
ENST00000287598.11,
ENST00000412359.7 )
BUB1B p.Arg814His (p.R814H) ( ENST00000287598.11, ENST00000412359.7 ) - Associated Disease
- Premature chromatid separation trait
- Source Database
- ClinVar
- Description
- NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) AND Premature chromatid separation trait
- ClinVar Allele ID
- 21803
- ClinVar RefSeq Alternation Syntax
- NM_001211.6:c.2441G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-05-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007161
- ClinVar Disease
- Premature chromatid separation trait
- Observed Origin Sample
- germline
- Pubmed
- 15475955
Drugs