Variant (rsID / SNP)

rs56079734

rs56079734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BUB1B. Location: chromosome 15, position 40,457,337. Clinical significance in the table: Benign.

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Reference-table entries

BUB1BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:40457337
Cytoband: 15q15.1
HGVS: NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
Allele change: Missense_T40M

Associated conditions / phenotypes

Carcinoma of colon|Mosaic variegated aneuploidy syndrome 1

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.