Annotation Detail
Information
- Associated Genes
- BUB1B
- Associated Variants
-
BUB1B p.Arg194Ter (p.R194*)
(
ENST00000287598.11,
ENST00000412359.7 )
BUB1B p.Arg194Ter (p.R194*) ( ENST00000287598.11, ENST00000412359.7 ) - Associated Disease
- mosaic variegated aneuploidy syndrome 1
- Source Database
- ClinVar
- Description
- NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) AND Mosaic variegated aneuploidy syndrome 1
- ClinVar Allele ID
- 21799
- ClinVar RefSeq Alternation Syntax
- NM_001211.6:c.580C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-09-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007152
- ClinVar Disease
- Mosaic variegated aneuploidy syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Pubmed
- 15475955
- Pubmed
- 9916837
Drugs