Annotation Detail
Information
- Associated Genes
- BUB1B BUB1B-PAK6
- Associated Variants
-
BUB1B p.Leu1012Pro (p.L1012P)
(
ENST00000558658.6,
ENST00000453867.7,
ENST00000287598.11,
ENST00000412359.7,
ENST00000441369.6 )
BUB1B p.Leu1012Pro (p.L1012P) ( ENST00000287598.11, ENST00000412359.7, ENST00000441369.6, ENST00000453867.7, ENST00000558658.6 ) - Associated Disease
- mosaic variegated aneuploidy syndrome 1
- Source Database
- ClinVar
- Description
- NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) AND Mosaic variegated aneuploidy syndrome 1
- ClinVar Allele ID
- 21804
- ClinVar RefSeq Alternation Syntax
- NM_001128629.3:c.-118+2974T>C
- ClinVar RefSeq Alternation Syntax
- NM_001128628.3:c.-201+2974T>C
- ClinVar RefSeq Alternation Syntax
- NM_001211.6:c.3035T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-07-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007162
- ClinVar Disease
- Mosaic variegated aneuploidy syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 15475955
Drugs