Variant (rsID / SNP)

rs28989186

rs28989186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BUB1B. Location: chromosome 15, position 40,468,873. Clinical significance in the table: Pathogenic.

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Reference-table entries

BUB1BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:40468873
Cytoband: 15q15.1
HGVS: NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)
Allele change: Nonsense_R194X

Associated conditions / phenotypes

Mosaic variegated aneuploidy syndrome 1|Premature chromatid separation trait

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.