Annotation Detail
Information
- Associated Genes
- BUB1B
- Associated Variants
-
BUB1B p.Arg550Gln (p.R550Q)
(
ENST00000287598.11,
ENST00000412359.7 )
BUB1B p.Arg814His (p.R814H) ( ENST00000287598.11, ENST00000412359.7 )
BUB1B p.Leu844Phe (p.L844F) ( ENST00000287598.11, ENST00000412359.7 )
BUB1B p.Ile909Thr (p.I909T) ( ENST00000412359.7, ENST00000441369.6, ENST00000287598.11, ENST00000453867.7 )
BUB1B p.Gln921His (p.Q921H) ( ENST00000412359.7, ENST00000441369.6, ENST00000453867.7, ENST00000287598.11 )
BUB1B p.Leu1012Pro (p.L1012P) ( ENST00000558658.6, ENST00000453867.7, ENST00000287598.11, ENST00000412359.7, ENST00000441369.6 )
BUB1B p.Arg550Gln (p.R550Q) ( ENST00000287598.11, ENST00000412359.7 )
BUB1B p.Arg814His (p.R814H) ( ENST00000287598.11, ENST00000412359.7 )
BUB1B p.Leu844Phe (p.L844F) ( ENST00000287598.11, ENST00000412359.7 )
BUB1B p.Ile909Thr (p.I909T) ( ENST00000287598.11, ENST00000412359.7, ENST00000441369.6, ENST00000453867.7 )
BUB1B p.Gln921His (p.Q921H) ( ENST00000287598.11, ENST00000412359.7, ENST00000441369.6, ENST00000453867.7 )
BUB1B p.Leu1012Pro (p.L1012P) ( ENST00000287598.11, ENST00000412359.7, ENST00000441369.6, ENST00000453867.7, ENST00000558658.6 ) - Associated Disease
- mosaic variegated aneuploidy syndrome
- Source Database
- DisGeNET
- Description
- Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
- Pubmed
- 15475955
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.561900093104562
- Year of publication
- 2004
Drugs