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Details of Gene

Item Details
Gene/Locus name

BUB1B (also called BUBR1,MAD3L,Bub1A,SSK1)

Long Name

BUB1 mitotic checkpoint serine/threonine kinase B (OMIM 602860)

Associated Disorders

OMIM 257300 : Mosaic variegated aneuploidy syndrome 1
OMIM 114500 : Colorectal cancer, somatic
OMIM 176430 : Premature chromatid separation trait

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

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