Annotation Detail
Information
- Associated Genes
- BUB1B BUB1B-PAK6
- Associated Variants
-
BUB1B p.Gln921His (p.Q921H)
(
ENST00000412359.7,
ENST00000441369.6,
ENST00000453867.7,
ENST00000287598.11 )
BUB1B p.Gln921His (p.Q921H) ( ENST00000287598.11, ENST00000412359.7, ENST00000441369.6, ENST00000453867.7 ) - Associated Disease
- Premature chromatid separation trait
- Source Database
- ClinVar
- Description
- NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) AND Premature chromatid separation trait
- ClinVar Allele ID
- 21801
- ClinVar RefSeq Alternation Syntax
- NM_001211.6:c.2763G>C
- ClinVar RefSeq Alternation Syntax
- NM_001128629.3:c.-205G>C
- ClinVar RefSeq Alternation Syntax
- NM_001128628.3:c.-288G>C
- Clinical Significance Description
- Affects
- Clinical Significance Last Update
- 2004-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007157
- ClinVar Disease
- Premature chromatid separation trait
- Observed Origin Sample
- germline
- Pubmed
- 15475955
Drugs