Annotation Detail
Information
- Associated Genes
- BUB1B
- Associated Variants
-
BUB1B p.Arg194Ter (p.R194*)
(
ENST00000287598.11,
ENST00000412359.7 )
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.Arg194Ter (p.R194*) ( ENST00000287598.11, ENST00000412359.7 )
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 ) - Associated Disease
- mosaic variegated aneuploidy syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.561900093104562
- Year of publication
- NA
Drugs